Uma condição que aumenta o risco de ter câncer, caracterizada pelo desenvolvimento de câncer colorretal (de intestino grosso) que não está ligado à polipose colorretal (uma condição com muitos pólipos no intestino), câncer de endométrio (no útero) e vários outros tipos de câncer (como o de ovário, estômago, vias biliares, intestino delgado e vias urinárias), e que, geralmente, são diagnosticados em idade precoce.
Introdução
O que você precisa saber de cara
O câncer colorretal hereditário sem polipose, conhecido como Síndrome de Lynch, é uma alteração genética que aumenta o risco de surgimento precoce de câncer no intestino grosso e em outros órgãos. Além dos tumores de cólon e reto, os portadores podem apresentar alterações em locais como endométrio, ovários, estômago e pele. Embora não haja um protocolo exclusivo para doenças raras no Ministério da Saúde, o SUS dispensa esquemas de quimioterapia para os tumores de cólon e reto por meio do PCDT de Adenocarcinoma de Cólon e Reto. A confirmação laboratorial conta com centenas de testes genéticos catalogados para identificar variantes nos genes de reparo do DNA.
Uma condição que aumenta o risco de ter câncer, caracterizada pelo desenvolvimento de câncer colorretal (de intestino grosso) que não está ligado à polipose colorretal (uma condição com muitos pólipos no intestino), câncer de endométrio (no útero) e vários outros tipos de câncer (como o de ovário, estômago, vias biliares, intestino delgado e vias urinárias), e que, geralmente, são diagnosticados em idade precoce.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 32 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 72 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
20 genes identificados com associação a esta condição.
Ataxia telangiectasia
A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.
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.
Colorectal cancer 10
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
Familial adenomatous polyposis 2
A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma.
Tumor predisposition syndrome 4
A disorder characterized by an increased risk for developing various types of benign and/or malignant neoplasms that arise at an accelerated rate and in different organs.
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.
Breast cancer
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
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.
Retinitis pigmentosa 35
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Hereditary non-polyposis colorectal cancer 7
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.
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.
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.
Juvenile polyposis syndrome
Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers.
Colorectal cancer 12
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable.
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.
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.
Medicamentos e terapias
Mecanismo: Cyclooxygenase inhibitor
Mecanismo: Vascular endothelial growth factor A inhibitor
Mecanismo: Thymidylate synthase inhibitor
Mecanismo: Arachidonate 5-lipoxygenase inhibitor
Mecanismo: Cyclooxygenase inhibitor
Mecanismo: HMG-CoA reductase inhibitor
Variantes genéticas (ClinVar)
14.476 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 658 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
154 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 — Câncer colorretal hereditário sem polipose
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Publicações mais relevantes
Hereditary Nonpolyposis Colon Cancer (Lynch Syndrome): An Emerging Public Health Concern.
Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominant disorder caused by germline mutations in DNA mismatch repair (MMR) genes that confer increased lifetime risks for colorectal, endometrial, and other cancers. Lynch syndrome accounts for only 3%-5% of colorectal cancer cases; however, most patients with Lynch syndrome are not diagnosed, leading to missed opportunities for enhanced surveillance and preventive interventions. This study examined the molecular genetics, epidemiology, and shortcomings of conventional, selective screening strategies for Lynch syndrome. Universal tumor testing using MMR immunohistochemistry (IHC) or microsatellite instability (MSI) analyses is recommended for all newly diagnosed colorectal and endometrial cancers, with reflex BRAF/methylation testing applied to distinguish likely sporadic cases. We also need to consider essential components of coordinated Lynch syndrome management, including cascade screening of family members, electronic health record (EHR) integration, multidisciplinary care teams, and public education. Selective screening for Lynch syndrome, based on the age or family history, misses many cases, whereas universal tumor testing is more cost-effective for identifying more patients. In addition to genetic counseling, surveillance colonoscopy, prophylactic surgical measures, and psychosocial support, we must provide equitable access to these services for all potentially affected patients. Advances in technology, such as circulating tumor DNA (ctDNA) assays and polygenic risk scores, represent new methods for cancer screening and risk stratification. In summary, a coordinated, equity-centric public health model for Lynch syndrome should incorporate universal tumor testing, cascade screening, integration of clinical workflows, and community outreach. This framework could potentially turn the "underrecognized" aspect of Lynch syndrome into a "largely preventable" cancer syndrome. The proposed model could also represent a way to develop a broader strategy for other hereditary cancer syndromes, as future research focuses on scalable implementation, real-world cost-effectiveness, and genomic population screening.
Deficient Mismatch Repair and Microsatellite Instability in Solid Tumors.
The integrity of the genome is maintained by mismatch repair (MMR) proteins that recognize and repair base mismatches and insertion/deletion errors generated during DNA replication and recombination. A defective MMR system results in genome-wide instability and the progressive accumulation of mutations. Tumors exhibiting deficient MMR (dMMR) and/or high levels of microsatellite instability (termed "microsatellite instability high", or MSI-H) have been shown to possess fundamental differences in clinical, pathological, and molecular characteristics, distinguishing them from their "microsatellite stable" (MSS) counterparts. Molecularly, they are defined by a high mutational burden, genetic instability, and a distinctive immune profile. Their distinct genetic and immunological profiles have made dMMR/MSI-H tumors particularly amenable to treatment with immune checkpoint inhibitors (ICIs). The ongoing development of biomarker-driven therapies and the evaluation of novel combinations of immune-based therapies, with or without the use of conventional cytotoxic treatment regimens, continue to refine treatment strategies with the goals of maximizing therapeutic efficacy and survival outcomes in this distinct patient population. Moreover, the resultant knowledge of the mechanisms by which these features are suspected to render these tumors more responsive, overall, to immunotherapy may provide information regarding the potential optimization of this therapeutic approach in tumors with proficient MMR (pMMR)/MSS tumors. Colorectal cancer is the third most common diagnosis and cause of cancer-related death in both sexes in the United States. Worldwide and in the United States, colon and rectal cancers are the second most common cause of cancer-related mortality. Incidence rates have been decreasing in Western countries, mostly due to the widespread use of colonoscopy screening. However, the condition's incidence among younger adults is increasing. Most colon cancer is sporadic, and approximately 5 percent are due to an inherited genetic mutation, mostly due to Lynch syndrome (hereditary nonpolyposis colon cancer or HNPCC) and familial adenomatous polyposis (FAP). The transition from normal colon epithelium to invasive cancer takes several years and most commonly follows a sequence characterized by the accumulation of genetic mutations, adenoma formation, and subsequent carcinogenesis (adenoma-carcinoma sequence). Certain cancers may follow alternative pathways, such as those involving DNA mismatch repair (MMR) and the BRAF gene. Colon cancer screening is recommended and may be performed using various modalities. Screening initiation and follow-up guidelines vary among organizations. Colon cancer diagnosis requires a tissue biopsy, usually obtained via colonoscopy. All newly diagnosed colon cancers should be screened for common genetic mutations, and a complete colonoscopy and baseline carcinoembryonic antigen (CEA) should be performed. Most patients with invasive cancer require a baseline chest and abdominopelvic computed tomography (CT) scan. Surgical resection is the main modality for localized early-stage colon cancer. The most important prognostic indicator is the pathological stage. Staging dictates the need for further therapy, which may include chemotherapy, immunotherapy, or, rarely, radiation. Surveillance after treatment is crucial in detecting metastatic disease and local recurrence, which may be curable with multimodality therapy. Palliative systemic therapy is reserved for nonresectable or widely metastatic disease to improve quality of life and survival. Hereditary nonpolyposis colorectal cancer (HNPCC), previously known as Lynch syndrome, is an autosomal dominant genetic disorder with varying degrees of penetrance. HNPCC is the most common cause of inherited colorectal cancer. This disease is characterized by a strong family history of related cancers, affecting first-degree relatives across at least 2 generations, with at least 1 case diagnosed before the age of 50. The primary genetic defect associated with HNPCC is a germline mutation in 1 of the mismatch repair (MMR) genes, particularly MLH1, MSH2, MSH6, or PMS2. Individuals with HNPCC have a lifetime risk of colorectal cancer between 50% and 80%, often diagnosed before age 50, along with increased risks for other cancers, particularly endometrial (25%-60% risk), ovarian, stomach, and urinary tract cancers. Tumors associated with HNPCC typically exhibit microsatellite instability (MSI), which aids in diagnosis and treatment decisions. Early identification of affected individuals and appropriate screening significantly reduces the risk of malignancy.
Dual primary gastric and colorectal cancer: The known hereditary causes and underlying mechanisms.
In this editorial, I commented on the paper by Lin et al, published in this issue of the World Journal of Gastrointestinal Oncology. The work aimed at analysing the clinicopathologic characteristics and prognosis of synchronous and metachronous cancers in patients with dual primary gastric and colorectal cancer (CRC). The authors concluded the necessity for regular surveillance for metachronous cancer during postoperative follow-up and reported the prognosis is influenced by the gastric cancer (GC) stage rather than the CRC stage. Although surveillance was recommended in the conclusion, the authors did not explore this area in their study and did not include tests used for such surveillance. This editorial focuses on the most characterized gastrointestinal cancer susceptibility syndromes concerning dual gastric and CRCs. These include hereditary diffuse GC, familial adenomatous polyposis, hereditary nonpolyposis colon cancer, Lynch syndrome, and three major hamartomatous polyposis syndromes associated with CRC and GC, namely Peutz-Jeghers syndrome, juvenile polyposis syndrome, and PTEN hamartoma syndrome. Careful assessment of these syndromes/conditions, including inheritance, risk of gastric and colorectal or other cancer development, genetic mutations and recommended genetic investigations, is crucial for optimum management of these patients.
The Role of the Transforming Growth Factor-β Signaling Pathway in Gastrointestinal Cancers.
Transforming growth factor-β (TGF-β) has attracted attention as a tumor suppressor because of its potent growth-suppressive effect on epithelial cells. Dysregulation of the TGF-β signaling pathway is considered to be one of the key factors in carcinogenesis, and genetic alterations affecting TGF-β signaling are extraordinarily common in cancers of the gastrointestinal system, such as hereditary nonpolyposis colon cancer and pancreatic cancer. Accumulating evidence suggests that TGF-β is produced from various types of cells in the tumor microenvironment and mediates extracellular matrix deposition, tumor angiogenesis, the formation of CAFs, and suppression of the anti-tumor immune reaction. It is also being considered as a factor that promotes the malignant transformation of cancer, particularly the invasion and metastasis of cancer cells, including epithelial-mesenchymal transition. Therefore, elucidating the role of TGF-β signaling in carcinogenesis, cancer invasion, and metastasis will provide novel basic insight for diagnosis and prognosis and the development of new molecularly targeted therapies for gastrointestinal cancers. In this review, we outline an overview of the complex mechanisms and functions of TGF-β signaling. Furthermore, we discuss the therapeutic potentials of targeting the TGF-β signaling pathway for gastrointestinal cancer treatment and discuss the remaining challenges and future perspectives on targeting this pathway.
Retinal Arterial Macroaneurysm in a Patient With Lynch Syndrome.
Purpose: To describe a case of retinal arterial macroaneurysm (RAM) in a patient with hereditary nonpolyposis colon cancer (HNPCC)/Lynch syndrome. Methods: A case and its findings were analyzed. Results: A 68-year-old woman presented with a recent history of decreased near vision in the left eye. Both eyes had a visual acuity of 20/20 with normal intraocular pressure. The right retina was normal. The left retina had a focal dilation of the retinal arteriole with a surrounding hemorrhage and lipid in the inferonasal quadrant. The patient was diagnosed with RAM and was subsequently treated with focal laser photocoagulation. The patient had a medical history of stage 1 colon cancer associated with HNPCC/Lynch syndrome. Conclusions: Increased vascular network complexity has been reported in HNPCC/Lynch syndrome. This is the first report of a RAM in a patient with this genetic profile. Given the atypical presentation, there may be an association between HNPCC/Lynch syndrome and RAMs.
Publicações recentes
Hereditary Nonpolyposis Colon Cancer (Lynch Syndrome): An Emerging Public Health Concern.
Hereditary Nonpolyposis Colon Cancer (Lynch Syndrome).
Dual primary gastric and colorectal cancer: The known hereditary causes and underlying mechanisms.
The Role of the Transforming Growth Factor-β Signaling Pathway in Gastrointestinal Cancers.
📚 EuropePMC55 artigos no totalmostrando 17
Hereditary Nonpolyposis Colon Cancer (Lynch Syndrome): An Emerging Public Health Concern.
Health science reportsDeficient Mismatch Repair and Microsatellite Instability in Solid Tumors.
International journal of molecular sciencesDual primary gastric and colorectal cancer: The known hereditary causes and underlying mechanisms.
World journal of gastrointestinal oncologyThe Role of the Transforming Growth Factor-β Signaling Pathway in Gastrointestinal Cancers.
BiomoleculesRetinal Arterial Macroaneurysm in a Patient With Lynch Syndrome.
Journal of vitreoretinal diseases[Surgical strategies for hereditary colorectal cancer].
Chirurgie (Heidelberg, Germany)Clinical characteristics of pancreatic and biliary tract cancers in Lynch syndrome: A retrospective analysis from the Finnish National Lynch Syndrome Research Registry.
Frontiers in oncologyEvaluation of Microsatellite Instability Molecular Analysis versus Immuno-Histochemical Interpretation in Malignant Neoplasms with Different Localizations.
CancersPancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation.
GenesGastrointestinal polyposis with associated cutaneous manifestations.
PathologyIsolation and Characterization of Chemo-Resistant Stem Cells from a Mouse Model of Hereditary Non-Polyposis Colon Cancer.
Stem cells and cloning : advances and applicationsDetection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden.
Genetic testing and molecular biomarkersAn Update on Inherited Colon Cancer and Gastrointestinal Polyposis.
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnostiA possible association between mycosis fungoides and Muir-Torre syndrome: Two disorders with microsatellite instability.
JAAD case reportsProstaglandin E2-Induced COX-2 Expressions via EP2 and EP4 Signaling Pathways in Human LoVo Colon Cancer Cells.
International journal of molecular sciencesMuir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma.
Case reports in oncologyMouse models of DNA mismatch repair in cancer research.
DNA repairAssociações
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Doença com base genética
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Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É uma condição genética caracterizada pela predisposição ao surgimento de câncer colorretal e outros tumores em idade precoce, sem estar associada a uma polipose intestinal disseminada. A patologia também pode predispor ao câncer de endométrio, ovário, estômago e vias urinárias.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
7 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Câncer colorretal hereditário sem polipose. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/cancer-colorretal-hereditario-sem-polipose
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Câncer colorretal hereditário sem polipose
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- Doença rara (ontologia)
- fonte: Orphanet
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- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Ensaios clínicos
- fonte: ClinicalTrials.gov
