Síndrome neoplásica hereditária autossômica dominante caracterizada pelo desenvolvimento de carcinoma colorretal e alto risco de desenvolver carcinoma endometrial, carcinoma gástrico, carcinoma ovariano, carcinoma renal da pelve e carcinoma do intestino delgado. Os pacientes geralmente desenvolvem carcinomas colorretais em idade precoce (média de 45 anos). Na maioria dos casos as lesões surgem do cólon proximal. No nível molecular, a instabilidade de microssatélites de alta frequência está presente.
Introdução
O que você precisa saber de cara
Síndrome neoplásica hereditária autossômica dominante caracterizada pelo desenvolvimento de carcinoma colorretal e alto risco de desenvolver carcinoma endometrial, carcinoma gástrico, carcinoma ovariano, carcinoma renal da pelve e carcinoma do intestino delgado. Os pacientes geralmente desenvolvem carcinomas colorretais em idade precoce (média de 45 anos). Na maioria dos casos as lesões surgem do cólon proximal. No nível molecular, a instabilidade de microssatélites de alta frequência está presente.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 27 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 64 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
9 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E
Lateral cell membraneCell junction, tight junction
Diarrhea 5, with tufting enteropathy, congenital
An intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum.
Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides
NucleusChromosome
Lynch syndrome 1
A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.
Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:20949621, PubMed:39809765). Plays an important role in the regulation of cell proliferation (PubMed:22711838, PubMed:23698361). Activates MAPK1/MAPK3 resulting in phosphorylation and ultimately degradation of GJA1 (By similarity). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306)
Cell membraneEndomembrane systemCytoplasm, cytosol
Leukemia, acute myelogenous
A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.
Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and thus regulates a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extr
Cell membraneMembrane raftSecreted
Hereditary non-polyposis colorectal cancer 6
An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.
Component of the post-replicative DNA mismatch repair system (MMR) (PubMed:30653781, PubMed:35189042). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and
Nucleus
Lynch syndrome 4
A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.
Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points f
NucleusChromosome
Lynch syndrome 2
A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.
Probably involved in the repair of mismatches in DNA
Nucleus
Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:23936502, PubMed:28676499). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396, PubMed:28676499). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1,
Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstrea
NucleusChromosome
Lynch syndrome 5
A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.
Variantes genéticas (ClinVar)
5,046 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 11,544 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
79 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Lynch
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
15 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
149 ensaios clínicos encontrados, 32 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 3.705
Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.
Germline defects in mismatch repair (MMR) genes are known to significantly increase the risk of developing certain types of cancers, notably colorectal and endometrial cancers. These conditions are characterized under Lynch syndrome. Accurate diagnosis of this predisposition, along with meaningful predictive testing for family members, necessitates the identification of pathogenic variants. However, classifying small coding genetic variants identified in cancer patients is very challenging, specifically in the case of PMS2 variants, since PMS2 pathogenic variants display a lower penetrance and less severe phenotype and therefore a lower tumor burden in affected families. We have assembled clinical data on four PMS2 missense variants of uncertain significance (VUS) identified in 23 patients (p.(Asp286Gly), p.(Asn335Ser), p.(Ile679Thr) and p.(Arg799Trp)). For these variants, functional testing was performed (RNA splicing, protein stability and catalytic activity). Since many protein ortholog sequences and accurate predictive models from AlphaFold2 are available, we also included a systematic analysis of residue conservation and structural role (ConStruct assessment). Overall, our findings indicate that p.(Asp286Gly) and p.(Arg799Trp) behave similarly to wild-type PMS2 and are thus probably neutral. In contrast, p.(Asn335Ser) and p.(Ile679Thr) conferred defects in protein expression or MMR activity. These could be explained by the relevant roles of these amino acids in MLH1-PMS2-N-terminal dimerization (p.Asn335) and C-terminal dimerization (p.Ile679). Our data thus suggest that p.(Asp286Gly) and p.(Arg799Trp) are benign, while the tumor risk in the other two variants remains to be established. Taken together, we suggest roadmaps for the individualized evaluation of difficult uncertain variants by comprising information from all available sources.
A paradigm shift in genetic predisposition to colorectal cancer: the impact of germline multigene panel testing on diagnosis and management.
Hereditary colorectal cancer (HCRC), arising from pathogenic germline variants, accounts for 5-10% of all CRCs. The widespread clinical adoption of next-generation sequencing (NGS) and multigene panel testing (MGPT) has fundamentally transformed the diagnostic paradigm for this genetic predisposition. This review summarizes the latest epidemiological data on genetic predisposition to CRC and examines the essential practical changes required for genomics-based precision medicine. Recent large-scale genomic cohort studies have consistently revealed a higher prevalence of pathogenic/likely pathogenic germline variants (PGVs) in unselected CRC populations than previously recognized, ranging from 3.3 to 15.5%. This proportion is dramatically elevated in patients with early onset CRC (EOCRC), defined as a diagnosis before age 50, where prevalence consistently exceeds 15%. Notably, MGPT has expanded the etiological spectrum far beyond Lynch syndrome (LS)-related genes, demonstrating a significant contribution from non-LS and high- and moderate-penetrance genes, particularly those associated with homologous recombination deficiency (HRD). Consequently, the management of genetic predisposition to CRC is rapidly shifting from single syndrome-based diagnoses to individualized precision medicine guided by gene-specific lifetime cancer risks. To realize clinical benefits, two imperatives must be addressed: (1) the implementation of universal genomic screening for all patients with EOCRC and (2) the development of proactive medical-contact approach models in cascade screening for at-risk relatives. Nevertheless, the viability of this proposal varies considerably between Europe, America, and Asia. Considerable uncertainty surrounds implementation in Asia, where a plethora of challenges must be overcome to facilitate the integration of genomic medicine within the Asian context.
Underutilization of Genetic Counseling and Germline Testing Following Abnormal Mismatch Repair Immunohistochemistry in Colorectal Cancer.
This study aimed to assess referral patterns for genetic counseling among colorectal cancer patients with MLH1, PMS2, MSH2 or MSH6 loss, evaluate the completion rates of germline genetic testing in eligible patients, and identify barriers to genetic evaluation in this population. We conducted a retrospective chart review of 102 patients with CRC who demonstrated loss of MLH1, PMS2, MSH2, or MSH6 expression on MMR immunohistochemistry between January 2022 and December 2024 across a large healthcare system. In cases with MLH1 loss, reflex tumor testing for BRAF V600E mutation and MLH1 promoter hypermethylation was used to exclude likely sporadic etiologies. Patients with BRAF mutation or MLH1 promoter hypermethylation were excluded, resulting in a final sample of 63 patients eligible for genetic counseling referral. Data collected included demographic characteristics, MMR protein status, site of care (university or community), referral to genetic counseling, completion of germline testing, and documented barriers to referral or follow-through. Among the 63 eligible patients, the mean age was 69.8 years, and 55.6% were female. The cohort included 60.3% White, 30.2% African American, and 9.5% Asian patients. A total of 36.5% were seen at a university hospital and 63.5% at community hospitals. In adjusted analyses, patient age was the only characteristic significantly associated with referral, with patients aged ≤60 years more likely to be referred than older patients. Despite meeting eligibility, only 38% of patients were referred for genetic counseling. Of those referred, 54.2% completed germline testing, representing 20.6% of the total cohort. The most common barrier was lack of provider referral, affecting 63% of patients. Despite clear eligibility criteria, fewer than 40% of patients were referred to genetic counseling, and only one in five completed germline testing. The most significant barrier was the lack of provider referral. These findings highlight the need for system-level interventions, including automated referrals, improved communication tools, and navigation support to ensure access to genetic services.
"Where do I go from here?" Navigating a lifelong road without a map: the care experiences of hereditary cancer patients.
Individuals with hereditary cancer syndromes (HCS) face significant healthcare challenges, as they require lifelong surveillance for a multitude of at-risk organs. Despite the existence of HCS programs, literature has not elucidated the patient perspective of living with an HCS and the care journey. This study aimed to inform clinical practice by exploring the care experiences of HCS patients. HCS patients were purposely sampled from cancer/genetic clinics across three Canadian provinces to reflect demographic and clinical variations. Data collection included qualitative, semi-structured interviews. Analysis used interpretive descriptive methodology. Seventy-three participants were interviewed (39 Hereditary breast and ovarian cancer syndrome, 34 Lynch syndrome; 51 females, 21 males, 1 gender-diverse; aged 25-80). Participants described a sense of disorientation after their HCS diagnosis, with a sense of navigating a road without a map. These feelings emerged from the "fragmentation" of their care, bodies, and information from healthcare practitioners. Consequently, participants described experiencing uncertainty and distress, and desired care integration in the form of consistent, knowledgeable practitioners and a holistic approach to care. Key timepoints were revealed where increased psychological support may be required: following HCS diagnosis, when obtaining imaging results, and when undergoing risk-reducing surgery. This study highlights the need for a comprehensive, person-centered approach to HCS management.
Universal tumor screening and mainstream genetic testing for Lynch syndrome in colorectal cancer: a scoping review of barriers and facilitators.
Patients with colorectal cancer (CRC) and Lynch syndrome (LS) have elevated cancer risks and require personalized treatment and targeted surveillance. At-risk relatives can also benefit from preventive measures. However, LS remains largely undiagnosed. Integration of universal tumor screening (UTS) with mainstream genetic testing in patients with CRC has been recommended, but implementation of this approach remains inconsistent. This scoping review mapped evidence on barriers and facilitators in diagnostic pathways that integrate UTS and mainstream genetic testing for LS in CRC. A search of MEDLINE, Scopus, CINAHL and PsycINFO was conducted, and five articles were selected. Barriers and facilitators were mapped to the Theoretical Domains Framework (TDF). The most frequently mapped domains were Environmental Context and Resources (in 5/5 articles) Social/Professional Role and Identity, Beliefs about Consequences, Social Influences, and Behavioral Regulation (all in 4/5 articles). Barriers included insufficient clinician education, difficulties in navigating consent processes and interpreting testing results, and perceived lack of evidence demonstrating the benefit of genetic testing. Unclear and conflicting perceptions among different professional groups about who should be responsible for essential components of genetic testing and follow-up also emerged. Social Influences such as strong leadership, collaboration, and networked support from "champions" acted as key facilitators. Mechanisms of Behavioral Regulation, including audit, feedback, and ongoing education, as well as appropriate resourcing, were identified as essential for sustaining practice change. Future studies could usefully explore patients' views and preferences regarding novel diagnostic pathways for LS in CRC that align UTS and mainstream genetic testing, as well as strategies developed and implemented in low-resource settings.
Publicações recentes
Complete response to pembrolizumab in a paediatric patient with Lynch syndrome-associated colorectal cancer: a case report and review of immunotherapy-related bowel obstruction.
Germline Variants in Bladder and Upper Tract Urothelial Cancers: Prevalence and Clinical Context in a Large Testing Registry.
💬 OpiniãoEPR26-179: Patient Perceptions of Vaccine-Based Cancer Prevention in Lynch Syndrome.
A novel frameshift variant in MSH2 (p.Q170Rfs4) associated with suspected Lynch syndrome in a Chinese family.
Molecular and clinical characteristics of glioma patients with germline pathogenic mutations of Lynch syndrome genes: a large-scale multicenter study.
📚 EuropePMC2.763 artigos no totalmostrando 200
Prevention strategies for hereditary gynaecological cancer in Lynch syndrome.
Familial cancerComments on "The diagnostic potential of urinary volatile organic compounds for colorectal neoplasia in Lynch syndrome-A prospective longitudinal study".
International journal of cancerComparison of clinical, pathological and genomic characteristics between Lynch and non-Lynch patients with MMRd endometrial carcinoma.
BMC cancerAppendiceal Goblet Cell Adenocarcinoma With Mismatch Repair Deficiency and Microsatellite Instability-High Status: A Novel Molecular Signature Guiding Immuno-Oncology Strategy.
Pathology internationalPatients' and family members' experiences with cascade testing for Lynch syndrome in the USA: a qualitative interview study.
Journal of community geneticsIncreasing awareness of effective laboratory test utilization via case-based microlearning.
American journal of clinical pathologyUptake and timing of risk-reducing gynecologic surgery among individuals with Lynch syndrome identified via population screening.
Familial cancerUtilization of care and alignment of screening with NCCN guidelines for patients with Lynch syndrome: a retrospective cohort study.
Hereditary cancer in clinical practiceAnalysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.
European journal of human genetics : EJHGMolecular Profiling of Germline Variants in the DNA Mismatch Repair Genes in Chinese Colorectal Cancer Patients.
Genetics researchLetter: Fecal VOCs in Lynch Syndrome: Sample Stability, Specificity and Statistical Validation.
Alimentary pharmacology & therapeuticsA paradigm shift in genetic predisposition to colorectal cancer: the impact of germline multigene panel testing on diagnosis and management.
International journal of clinical oncologyMuir-Torre Syndrome: A Rare Case Report and Review of Literature.
Clinical, cosmetic and investigational dermatologyColonoscopy surveillance in Lynch syndrome: what it prevents and what it does not.
Journal of medical genetics[Advanced colorectal cancer in a 19-year-old male patient with Lynch syndrome:a case report].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterologyCompliance of Dermatology Screening Visits Among Patients With Skin Cancer-Predisposing Pathogenic Variants.
JEADV clinical practiceOncological Genetic Counseling in Hereditary Breast and Ovarian Cancers and Lynch Syndrome High-Risk Subjects: Evaluation of Efficacy and Outcomes Using the Genomics Outcome Scale.
Human mutationBroader Familial Cancer Risk in Relatives of Testicular Cancer Patients: Insights From Two Mediterranean Populations.
AndrologyExperiences of patients and public partners in codesign of Lynch Choices™: an evaluation study using the Patient Engagement In Research Scale (PEIRS-22).
Research involvement and engagementRadiomics in sporadic microsatellite instable, mismatch repair deficient and Lynch syndrome-associated pancreatic ductal adenocarcinoma: a pilot study.
Frontiers in oncologyHigh-grade gliomas and Lynch syndrome: A retrospective descriptive study with a literature review.
Neuro-oncology practiceNeurogenetic tumor syndromes: The current landscape of workup and treatment.
Neuro-oncology practiceUnderutilization of Genetic Counseling and Germline Testing Following Abnormal Mismatch Repair Immunohistochemistry in Colorectal Cancer.
Digestive diseases and sciencesThe gut microbiome as a biomarker and modifiable risk factor in Lynch Syndrome.
Familial cancerA broad-range polymerase chain reaction on a formalin-fixed, paraffin-embedded tissue is a powerful diagnostic tool, but requires cautious interpretation: a case report.
Frontiers in medicineClinicopathologic, molecular and tumor immune microenvironment features of mismatch repair-deficient glioblastomas in Lynch syndrome: a multicenter study of 29 cases with therapeutic implications.
Acta neuropathologica communications"Where do I go from here?" Navigating a lifelong road without a map: the care experiences of hereditary cancer patients.
European journal of human genetics : EJHGMicroglandular adenosis, triple negative breast carcinoma and DNA repair defects.
Journal of clinical pathologyRisk of Metachronous Colorectal Cancer After Segmental or Extended Resection in Patients with Lynch Syndrome.
Journal of the American College of SurgeonsUniversal tumor screening and mainstream genetic testing for Lynch syndrome in colorectal cancer: a scoping review of barriers and facilitators.
European journal of human genetics : EJHGFamilial colorectal cancer: risk factors, screening strategies and personalized medicine.
Cancer geneticsThe Vital Role of Family Physicians in the Screening and Early Detection of Lynch Syndrome: A Case Report.
CureusRisk of Non-colorectal Malignancies in Sporadic Versus Lynch Syndrome-associated dMMR Colorectal Cancer.
Anticancer researchImproving care for Lynch syndrome patients: integrating surveillance into England's national bowel cancer screening programme.
Familial cancerComparing theory-driven and intuition-based approaches to inform implementation strategies in practice: an exploratory two-arm cluster-randomized head-to-head implementation trial.
JBI evidence implementationFrom theory to practice: improving Lynch syndrome recognition through evidence-based education.
Familial cancerGlobal Proteomic Analysis of Colorectal Cancers Stratified by Microsatellite Instability Subtype Reveals Protein Differences.
bioRxiv : the preprint server for biologyImmunotherapy in Synchronous Gastric and Colonic Deficient Mismatch Repair Malignancies in a Case Series of Patients With Lynch Syndrome.
JCO precision oncologyNeoplasia outcomes following colonoscopy for Lynch syndrome at a dedicated center vs. community centers.
Endoscopy international openDigital multiplex ligation-dependent probe amplification identifies exon-level copy number variants in patients with suspected hereditary cancer and negative next-generation sequencing results.
Molecular biology reportsCase Report: A case of Lynch syndrome-related glioblastoma with coexisting MSH2 splicing defect and MSH6 frameshift mutation.
Frontiers in oncologyBeyond Asbestos: Malignant Pleural Mesothelioma Revealing Lynch Syndrome Through Mismatch Repair Deficiency.
CureusToward Timely Diagnosis of Pancreatic Cancer: Revolutionizing Early Detection Through Genomics, Artificial Intelligence, and Noninvasive Biomarkers.
Journal of gastroenterology and hepatologyHereditary Endometrial Cancer: Lynch Syndrome, Mismatch Repair Deficiency, and Emerging Genetic Predispositions-A Comprehensive Review with Clinical and Laboratory Guidelines.
International journal of molecular sciencesSecond Primary Malignancies in Patients with Colorectal Cancer: The Frequency, Types, and Timeline.
Journal of clinical medicineLynch Syndrome as a Spectrum of Four Distinct Genetic Disorders: Toward Genotype-Guided Precision Management in the NGS Era.
CancersQuality of life, anxiety and cancer worry following hereditary cancer testing: a 6-month Swedish follow-up study.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitationNeoantigen Vaccine Spurs Broad Immune Responses.
Cancer discoveryA multilevel perspective on MSH6-associated Lynch syndrome: Integrating molecular, biological, and clinical insights.
International journal of cancerIncidental MSH6 Germline Pathogenic Variant Identified through Tumor-Only Comprehensive Genomic Profiling in a Patient with Small Cell Lung Cancer.
Internal medicine (Tokyo, Japan)Estimating the prevalence of germline mutations in DNA mismatch repair genes among patients with upper tract urothelial carcinoma: a systematic review and meta-analysis.
Urologic oncologyRisk stratification for endometrial cancer: independent and joint effects of polygenic risk score and body mass index in 129,829 UK Biobank participants.
BMC medicineSingle institution assessment of physician compliance and patient uptake with guideline directed aspirin therapy in the prevention of colorectal cancer in lynch syndrome.
Familial cancerMismatch repair deficiency and microsatellite instability in adrenocortical carcinoma.
ESMO openFeasibility and impact of Lynch syndrome genetic testing in newly diagnosed colorectal cancer patients: a multicenter observational study in Greece.
ESMO gastrointestinal oncologyAnalysis of DNA mismatch repair and microsatellite instability in molecular typing of endometrial carcinoma.
Discover oncologyExploring Microsatellite Instability in Endometrial Carcinomas: Clinicopathological Correlations and Clinical Implications-A Study from North India.
Indian journal of surgical oncology[Sebaceoma of the eyelid in a patient with Lynch syndrome revealing Muir-Torre syndrome].
Journal francais d'ophtalmologieClinicopathologic and Molecular Features of Tubo-Ovarian Carcinosarcomas With an Emphasis on p53 Wild-Type, KRAS-Mutated Tumors.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncUnderstanding patient priorities: Sexual health and hereditary ovarian cancer syndromes.
Gynecologic oncologyImmunohistochemical and Genetic Evidence of Lynch Syndrome-Related Well-Differentiated Pancreatic Neuroendocrine Tumor in Association with Peliosis of the Non-Tumorous Islets and Ductulo-Insular Complexes: An Expansion of Endocrine Manifestations of Lynch Syndrome.
Endocrine pathologyHereditary ovarian cancer in women with African ancestry: a scoping review.
Familial cancerGermline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers.
Familial cancerGenetic investigation of a Tunisian family with Lynch syndrome: a case report.
Frontiers in oncologyLung adenocarcinoma and colorectal cancer as double primary malignancies reveal lynch syndrome: a case report of germline MLH1 mutation with response to immunotherapy and familial aggregation.
Frontiers in immunologyNon-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium.
European journal of human genetics : EJHGAge-Related Germline Landscape of Endometrial Cancer: Focus on Early-Onset Cases.
JCO precision oncologyRecurrent Pituitary Adenoma Causing Cushing's Disease in a Patient With Lynch Syndrome.
CureusGene-specific cancer risks in female Lynch syndrome carriers: A copula-based meta-analysis.
MaturitasSubstratification of mismatch repair deficient endometrial cancers based on mechanism of MMR loss can provide prognostic and predictive refinement.
Gynecologic oncologyPlatelet activation, aspirin, and cancer: From basic science to clinical trials.
Pharmacological reviewsHealth Behaviors and Cancer Diagnosis Among Individuals with Pathogenic Variants Associated with Hereditary Breast and Ovarian Cancer or Lynch Syndrome.
Journal of personalized medicine[Localised Urothelial Carcinoma of the Upper Urinary Tract: Histopathology, Molecular Genetics, and Clinical Features].
Aktuelle UrologiePancreatic cancer risk and survival in patients with Lynch syndrome: a nationwide Dutch cohort study.
EClinicalMedicineDelphi panel consensus on genetic testing for prostate cancer in Australia: Whom to test and how?
Familial cancerRole of clonal lineage analysis via next-generation sequencing in identifying the origin of multiple cancers and guiding treatment options.
Japanese journal of clinical oncologyClinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines.
Diagnostic pathologySevere leukemoid reaction and spontaneous tumor lysis syndrome in a young patient with undifferentiated Lynch syndrome-associated ovarian cancer.
Gynecologic oncology reportsResearch progress in diagnosis and treatment of pancreatic cancer with mismatch repair and microsatellite instability.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoMLH1 Lynch Syndrome Colorectal Cancers Are Driven by Heterogeneous Wnt Pathway Gene Mutations.
GastroenterologyDeep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome.
JID innovations : skin science from molecules to population healthPediatric Malignancy in the Setting of Lynch Syndrome: A Case Series and Review of the Literature.
Pediatric blood & cancer[A Case of Lynch Syndrome with MLH1 Gene Mutation Identified by Comprehensive Genomic Profiling].
Gan to kagaku ryoho. Cancer & chemotherapy[RAS, BRAF, and Mismatch Repair Deficiency in Young-Onset Colorectal Cancer].
Gan to kagaku ryoho. Cancer & chemotherapy[Two Case Reports of Complete Response to Pembrolizumab in MSI-H Colorectal Cancer].
Gan to kagaku ryoho. Cancer & chemotherapyNous-209 neoantigen vaccine for cancer prevention in Lynch syndrome carriers: a phase 1b/2 trial.
Nature medicineAssessing quality of life in individuals with hereditary cancer risk: Results from phases 1-3a of the EORTC QLQ-HCR30 questionnaire.
European journal of cancer (Oxford, England : 1990)An accurate cellular assay to determine pathogenicity of coding and noncoding variants in Lynch syndrome genes.
Proceedings of the National Academy of Sciences of the United States of AmericaCharacterization of a novel MSH2 variant in Lynch syndrome: clinical data and complementary bioinformatics assessment.
Einstein (Sao Paulo, Brazil)Tumour immune contexture and immune evasion in sporadic and Lynch syndrome-associated microsatellite unstable colorectal cancers.
British journal of cancerGenetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.
Archives of gynecology and obstetricsPrevalence and clinical characteristics of Lynch syndrome-associated adrenocortical carcinoma.
Endocrine-related cancerOutcomes from the English National Lynch Syndrome transformation project.
International journal of cancerAn Exploration of Nursing Roles in Hereditary Colorectal Cancer- A Narrative Literature Review.
Seminars in oncology nursingIncidence of non-colorectal/endometrial malignancies in individuals with Lynch syndrome: a retrospective cohort study.
EClinicalMedicineYield of repeat gastric biopsies and Helicobacter pylori serological assessment in Lynch syndrome.
Cancer treatment and research communicationsBarriers and interventions to improve the uptake of cancer risk management strategies in hereditary cancer syndromes: a narrative review.
International journal of gynecological cancer : official journal of the International Gynecological Cancer SocietyAuto-Immune Pancreatitis with Pseudo-Tumoral Mass Induced by Pembrolizumab in a Woman suffering from Metastatic Urothelial Carcinoma: Case Report and Literature survey.
Acta gastro-enterologica BelgicaNew Insights from the Expression of the Mismatch Repair System in Pituitary Neuroendocrine Tumors.
Endocrine pathologySurgical Management of Lynch Syndrome in the Era of Aspirin and Genotype-Stratified Risk.
ANZ journal of surgeryIntegrative proteomics reveals mitochondrial and immune signatures of MLH1 exon 13 deletion in Lynch syndrome-associated colorectal cancer.
Frontiers in molecular biosciencesExome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer-Predisposing Factors in Familial Early-Onset Colorectal Cancer.
The Kaohsiung journal of medical sciencesImmune checkpoint blockade in locally advanced rectal cancer with deficient DNA mismatch repair: retrospective multicenter experience.
ESMO openDiagnostic Challenges and Clinical Implications of Microsatellite Instability/Mismatch Repair Deficiency in Solid Tumors.
Cancer research and treatmentLynch Syndrome in Focus: A Multidisciplinary Review of Cancer Risk, Clinical Management, and Special Populations.
CancersThe Role of Microsatellite Instability in Endometrial Hyperplasia and Risk of Carcinoma Development.
BiomedicinesCurcumin in colorectal cancer: preventive strategies and therapeutic mechanisms.
Cancer chemotherapy and pharmacologyOrgan-sparing strategies in patients with MSI/dMMR tumors including Lynch syndrome: Current state of the art and future perspectives for clinical decision-making.
International journal of cancerIdentification of the Lynch syndrome and Lynch-like syndrome specific somatic mutations in microsatellite instability-high colorectal cancer cases.
Surgery todayPrecision Care for Hereditary Urologic Cancers: Genetic Testing, Counseling, Surveillance, and Therapeutic Implications.
Current oncology (Toronto, Ont.)Prostate Cancer Risk and DNA Mismatch Repair Deficiency Among Lynch Syndrome Patients.
European urology open scienceEfficacy of Pembrolizumab as Conversion Therapy in Deficient Mismatch Repair/Microsatellite Instability-High Metastatic Liver Colorectal Cancer Associated With Lynch Syndrome: A Case-Based Analysis.
CureusImmune Checkpoint Inhibition as a Novel Strategy for Microsatellite Instability-High Duodenal Adenocarcinoma: A Report of Three Cases.
Surgical case reportsHereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndrome.
European journal of human genetics : EJHGImproving the performance of polymerase chain reaction for microsatellite instability testing in endometrial cancer.
Scientific reportsMolecular Pathology of Ovarian Endometrioid Carcinoma: A Review.
Oncology researchCowden Syndrome With a Co-existing Lynch Syndrome Risk Mutation.
CureusPrognostic and clinicopathological implications of mismatch-repair deficiency and MLH1 promoter methylation status in endometrial carcinoma.
International journal of clinical oncologyCancer risks in lynch syndrome carriers: a systematic review and meta-analysis.
Journal of the National Cancer InstituteUncovering the Cost-Effectiveness of Theory-Based Implementation Approaches: A Health Economic Analysis of the Hide and Seek Project Trial.
Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes ResearchAdvances in endometrial cancer screening: a comprehensive review of current methods and emerging technologies.
International journal of clinical oncologyA Review of Susceptibility Factors for Colibactin-Associated Colorectal Cancer in African Populations.
CureusGynecologic Manifestations of Hereditary Syndromes: Clinical and Imaging Spectrum.
Radiographics : a review publication of the Radiological Society of North America, IncIdentification of a novel variant in MLH1 intron causing aberrant splicing associated with Lynch syndrome.
Gastroenterology reportThe Application of the NGS and MLPA Methods in the Molecular Diagnostics of Lynch Syndrome.
Diagnostics (Basel, Switzerland)Plasmacytoid variant in Lynch syndrome-associated urothelial carcinoma.
Human pathologyLiving at genetic risk: The patient experience of Lynch syndrome.
International journal of cancerEthically Integrating Genomics in Primary Care: An Invitation to Share Implementation Best Practices.
Mayo Clinic proceedingsA Mutation-Specific Decision Model for Segmental Versus Total Abdominal Colectomy in Hereditary Nonpolyposis Colorectal Cancer.
Diseases of the colon and rectumA common food mutagen promotes intestinal carcinogenesis by multiple mechanisms in mouse models of Lynch syndrome.
NAR cancerBlurring the Lines: Co-Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient.
Clinical geneticsRare MSI-H hepatoid adenocarcinoma of the colon with BRAF V600E mutation achieving long-term disease-free survival after adjuvant envafolimab: a case report.
Frontiers in immunologyAdvances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine.
Intractable & rare diseases researchGenotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review.
Oncology reviewsSkin cancer risk in hereditary mixed cancer syndromes.
Hereditary cancer in clinical practiceAre Hormones a risk or an opportunity? Strategies for managing women predisposed to gynecological cancers.
MaturitasPediatric Oncology Patients With Germline Pathogenic Variants in Adult-Onset Cancer Predisposition Genes.
JCO precision oncologySignificant progress in hereditary gastrointestinal cancer research presented at the meeting of the International Society for Gastrointestinal Hereditary Tumors (InSiGHT) 10th meeting of InSiGHT, June 19th -22nd, 2024, Barcelona, Spain.
Familial cancerAn oligo-swapping method: preparation of mismatch repair-monitoring substrate using a nicking endonuclease.
MethodsXFirst Middle East and North Africa report of an EPCAM-MSH2 deletion in two Iranian Lynch syndrome families: a case report.
Cancer geneticsInstability in the Penta-C and Penta-D Loci in Microsatellite-Unstable Endometrial Cancer.
International journal of environmental research and public healthIntraventricular glioblastoma in Lynch syndrome: a case report.
Acta neurologica BelgicaPitfalls in MLH1 promoter methylation assessment, including POLEmut/MLH1meth endometrial adenocarcinoma.
Pathology, research and practiceCost-Utility Analysis of Universal Lynch Syndrome Screening among Colorectal Cancer Patients in a Low-Middle-Income Country.
Yonsei medical journalPathological diagnosis experience and literature review of four cases suspected Lynch-like syndrome.
Frontiers in oncologyACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum.
Journal of medical geneticsClinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Nature communicationsPan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan.
Communications medicineA Meta-Analysis of the Prevalence of Mismatch Repair Germline Mutations in Patients With Sebaceous Neoplasms: Are We Missing an Opportunity for Lynch Syndrome Detection?
The Australasian journal of dermatologyPatient and provider perspectives on how a mobile health application may address barriers to Lynch Syndrome care.
Familial cancerThe expression of Mutl Protein Homolog 1 (MLH1) and Muts Homolog 2 (MSH2) in colorectal carcinoma: An immunohistochemical study.
Indian journal of pathology & microbiologyUniversal screening for Lynch syndrome and molecular classification of patients with endometrial cancer.
International journal of surgery (London, England)A rare case of colonic adenocarcinoma in a pediatric patient.
JPGN reportsCancer risks for MSH6 pathogenic variant carriers.
European journal of cancer (Oxford, England : 1990)Impact of RAS/BRAFV600E Mutations on the Tumor Immune Microenvironment in Mismatch Repair-Deficient/Microsatellite Instability Colorectal Cancers.
Clinical cancer research : an official journal of the American Association for Cancer ResearchPathogenic germline variants among patients with ovarian cancer by self-reported ancestry: A commercial laboratory collaborative research registry study.
Gynecologic oncologyNOUS-209 off-the-shelf immunotherapy has the potential to hit primary and metachronous colorectal and urothelial cancer in Lynch syndrome.
Molecular cancer therapeuticsAdvances in Hereditary Colorectal Cancer: How Precision Medicine Is Changing the Game.
CancersA missed opportunity for preventing CMMRD: is it time to include Lynch syndrome genes in prenatal genetic testing?
BMJ case reportsJapanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.
International journal of clinical oncologyMesalamine for Colorectal Cancer Prevention Programme in Lynch syndrome (MesaCAPP): a multicentre, multinational, randomised, two-arm, double-blind, phase II clinical study with mesalamine or placebo in carriers with Lynch syndrome - a study protocol.
BMJ open[Surgical Management of Hereditary Colorectal Cancer Syndromes].
Zentralblatt fur ChirurgieGastrohepatic Fistula Secondary to Metastatic Colorectal Adenocarcinoma in a Patient With Lynch Syndrome.
Gastro hep advancesGenomic Instability in Hereditary Breast Cancer: Clinical and Nursing Implications for Risk Assessment and Targeted Therapeutic Strategies.
Seminars in oncology nursingMSAI-Path: Predicting Microsatellite Instability From Routine Histology Slides Without Reinventing the Wheel.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncThe efficacy of genetic counselling for familial colorectal cancer. A randomised clinical trial.
European journal of human genetics : EJHGQualitative and Quantitative Aspects of Discrepancies between Various Methods for Microsatellite Instability Detection.
Balkan journal of medical genetics : BJMGClinical Practice Guideline: Colorectal Cancer—Diagnosis, Treatment, Prevention, and Long-Term Follow-Up Care.
Deutsches Arzteblatt internationalMutation profile and molecular heterogeneity in mismatch repair deficient endometrial carcinoma.
Frontiers in oncologyPathogenic Germline Variant Prevalence and Genetic Testing Outcomes in Patients With Urothelial Carcinoma.
Clinical genitourinary cancerSalpingectomy in individuals at high risk for tubo-ovarian cancer: consensus and precaution.
American journal of obstetrics and gynecologyGene-Specific Adenoma Detection in Lynch Syndrome: Methodological Considerations and Clinical Implications.
GastroenterologyGenotype-Phenotype Characterization of Lynch Syndrome-associated Upper Tract Urothelial Carcinoma.
European urology oncologyCase Report: Unique immunotherapy response in a patient with metachronous colorectal cancer not associated with Lynch Syndrome.
Frontiers in oncologyEfficacy of immunotherapy in gastrointestinal (GI) tumors with mismatch repair deficient (MMRd) unusual phenotype: an AGEO real-world study.
Journal for immunotherapy of cancerA rare subtype of lynch syndrome familial with co-mutation of EpCAM c.344T>C, MSH2 c.2744A>G, PMS2 c.1408C>T and APC c.5465T>A, case report and literature review.
Frontiers in geneticsRare Intronic Variants Altering Splicing Cause Lynch Syndrome: Two Case Reports.
The journal of obstetrics and gynaecology researchTraditional and New Views on MSI-H/dMMR Endometrial Cancer.
BiomoleculesImpact of COVID-19 on Universal Tumor Screening, Referral Rates and Attendance at Cancer Genetic Counseling at a Safety-Net University Hospital.
Current oncology (Toronto, Ont.)Detection of urothelial carcinoma in Lynch syndrome using microsatellite instability analysis of urine cell-free DNA.
EBioMedicineCase Report: A patient with lynch syndrome with vaginal endometriosis-associated malignancy and synchronous colonic tubulovillous adenoma.
Frontiers in medicineCase Report: Successful treatment of a case of Lynch syndrome with double primary ovarian and rectal cancer.
Frontiers in oncologyDiagnosis and treatment strategies for hereditary pancreatic cancer syndrome.
International journal of clinical oncologyCurrent surveillance in the Netherlands for urothelial carcinoma in lynch syndrome.
Familial cancerValidation of Idylla MSI and BRAF genotype tests on archival colorectal cancer samples for retrospective Lynch syndrome detection.
Virchows Archiv : an international journal of pathologyMismatch Repair Deficiency and the Role of Non-Canonical Functions in Cancer: Diagnosis and Therapeutic Implications.
International journal of molecular sciencesLynch syndrome caused by SINE-VNTR-Alu-F retrotransposon insert in MSH6 confirmed after 20 years of testing: a case report and literature review.
Hereditary cancer in clinical practiceUnique Genetic and Epigenetic Alterations in Glioblastoma Long-Term Survivors: Insights From Two Clinical Cases.
Journal of cellular and molecular medicineInfluence of lynch syndrome on the incidence of side effects to antineoplastic treatment of patients with colorectal cancer.
Cancer geneticsPancreatic cancer and biliary tract tumors in individuals with lynch syndrome.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverAreas of Uncertainty in Pancreatic Cancer Surveillance: A Survey Across the International Pancreatic Cancer Early Detection (PRECEDE) Consortium.
JCO precision oncologyCauses of Death Among Individuals With Lynch Syndrome in the Immunotherapy Era.
JCO precision oncologyPrimary bladder signet ring cell adenocarcinoma in a young male with Lynch Syndrome.
Urology case reportsClonal origins and divergent evolutionary relationships of synchronous multiple malignant neoplasms in gynecology revealed by next-generation sequencing.
Cancer treatment and research communicationsFive cases of gastric cancer in Helicobacter pylori-uninfected stomachs with Lynch syndrome.
Clinical journal of gastroenterologyImplementation Mapping to Identify Best Practices for Implementing Population-Wide Genomic Screening Programs: Protocol for the FOCUS (Facilitating the Implementation of Population-Wide Genomic Screening) Study.
JMIR research protocolsConstrained hypermutation and absence of TERT promoter mutations in Lynch syndrome-associated urothelial cancer.
Cell reportsPopulation frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.
Scientific reportsPeri-operative management considerations for localised upper tract urothelial carcinoma in the setting of Lynch syndrome.
BMJ case reportsEvolution of microsatellite instability testing in a population-based cohort of patients with colorectal cancer in France in the years leading up to official recommendations.
BMC cancerAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome Lynch.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome Lynch
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.
- A paradigm shift in genetic predisposition to colorectal cancer: the impact of germline multigene panel testing on diagnosis and management.
- Underutilization of Genetic Counseling and Germline Testing Following Abnormal Mismatch Repair Immunohistochemistry in Colorectal Cancer.
- "Where do I go from here?" Navigating a lifelong road without a map: the care experiences of hereditary cancer patients.
- Universal tumor screening and mainstream genetic testing for Lynch syndrome in colorectal cancer: a scoping review of barriers and facilitators.
- Complete response to pembrolizumab in a paediatric patient with Lynch syndrome-associated colorectal cancer: a case report and review of immunotherapy-related bowel obstruction.
- Germline Variants in Bladder and Upper Tract Urothelial Cancers: Prevalence and Clinical Context in a Large Testing Registry.
- EPR26-179: Patient Perceptions of Vaccine-Based Cancer Prevention in Lynch Syndrome.
- A novel frameshift variant in MSH2 (p.Q170Rfs4) associated with suspected Lynch syndrome in a Chinese family.
- Molecular and clinical characteristics of glioma patients with germline pathogenic mutations of Lynch syndrome genes: a large-scale multicenter study.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:144(Orphanet)
- MONDO:0005835(MONDO)
- GARD:9905(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q783644(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
