ORIGINAL CONTRIBUTION Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome
نویسندگان
چکیده
Valérie Bonadona, MD, PhD Bernard Bonaı̈ti, MSc Sylviane Olschwang, MD, PhD Sophie Grandjouan, MD Laetitia Huiart, MD Michel Longy, MD, PhD Rosine Guimbaud, MD Bruno Buecher, MD, PhD Yves-Jean Bignon, MD, PhD Olivier Caron, MD Chrystelle Colas, MD Catherine Noguès, MD Sophie Lejeune-Dumoulin, MD Laurence Olivier-Faivre, MD, PhD Florence Polycarpe-Osaer, MD Tan Dat Nguyen, MD Françoise Desseigne, MD Jean-Christophe Saurin, MD, PhD Pascaline Berthet, MD Dominique Leroux, MD, PhD Jacqueline Duffour, MD Sylvie Manouvrier, MD, PhD Thierry Frébourg, MD, PhD Hagay Sobol, MD, PhD Christine Lasset, MD, PhD Catherine Bonaı̈ti-Pellié, MD, PhD for the French Cancer Genetics Network
منابع مشابه
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
CONTEXT Providing accurate estimates of cancer risks is a major challenge in the clinical management of Lynch syndrome. OBJECTIVE To estimate the age-specific cumulative risks of developing various tumors using a large series of families with mutations of the MLH1, MSH2, and MSH6 genes. DESIGN, SETTING, AND PARTICIPANTS Families with Lynch syndrome enrolled between January 1, 2006, and Dece...
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Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome characterized by predisposition to early-onset cancers. HNPCC is caused by heterozygous loss-of-function mutations within the mismatch repair genes MLH1, MSH2, MSH6, PMS1, and PMS2. We genotyped the MLH1 and MSH2 genes in patients suffering from Lynch syndrome and in 11 unrelated patients who were diagnosed wit...
متن کاملسه موتاسیون ژرم لاین جدید در ژن MLH1 در بیماران مبتلا به سرطان کولورکتال ارثی
Abstract Background: Hereditary non-polyposis colorectal cancer is the most common cause of early onset of hereditary colorectal cancer. In the majority of Hereditary non-polyposis colorectal cancer families, microsatellite instability and germline mutation in one of the DNA mismatch repair genes in clouding MSH2, MLH1, MSH6 and PMS2 are found. The Objective of this study was to determine th...
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Lynch syndrome is an autosomal dominant cancer predisposition syndrome which is caused by a germline mutation in one of four genes, MLH1, MSH2, MSH6 or PMS2. Individuals with a germline mutation in one of these genes are at increased lifetime risk of colon, endometrial, ovarian, small intestine, renal pelvis and ureter. Less commonly patients may develop biliary tract cancers, gastric and pancr...
متن کاملClinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
Lynch syndrome (LS) accounts for 3-5% of all colorectal cancers (CRC) and is inherited in an autosomal dominant fashion. This syndrome is characterized by early CRC onset, high incidence of tumors in the ascending colon, excess of synchronous/metachronous tumors and extra-colonic tumors. Nowadays, LS is regarded of patients who carry deleterious germline mutations in one of the five mismatch re...
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Lynch syndrome caused by constitutional mismatch‑repair defects is one of the most common hereditary cancer syndromes with a high risk for colorectal, endometrial, ovarian and urothelial cancer. Lynch syndrome is caused by mutations in the mismatch repair (MMR) genes i.e., MLH1, MSH2, MSH6 and PMS2. After 20 years of genetic counseling and genetic testing for Lynch syndrome, we have compiled th...
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