Mismatch repair genes in Lynch syndrome: a review
نویسندگان
چکیده
منابع مشابه
Mismatch repair genes in Lynch syndrome: a review.
Lynch syndrome represents 1-7% of all cases of colorectal cancer and is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in deoxyribonucleic acid (DNA) mismatch repair genes. Since the discovery of the major human genes with DNA mismatch repair function, mutations in five of them have been correlated with susceptibility to Lynch syndrome: mutS homolog ...
متن کاملMismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.
Founder mutations in specific populations are common in several Mendelian disorders. They are shared by apparently unrelated families that inherited them from a common ancestor that existed hundreds to thousands of years ago. They have been proven to impact in molecular diagnostics strategies in specific populations, where they can be assessed as the first screening step and, if positive, avoid...
متن کاملFrequent mismatch-repair defects link prostate cancer to Lynch syndrome.
BACKGROUND A possible role for prostate cancer in Lynch syndrome has been debated based on observations of mismatch-repair defective tumors and reports of an increased risk of prostate cancer in mutation carriers. Potential inclusion of prostate cancer in the Lynch syndrome tumor spectrum is relevant for family classification, risk estimates and surveillance recommendations in mutation carriers...
متن کاملTargeted next‐generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families
Causative germline mutations in mismatch repair (MMR) genes can only be identified in ~50% of families with a clinical diagnosis of the inherited colorectal cancer (CRC) syndrome hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome (LS). Identification of these patients are critical as they are at substantially increased risk of developing multiple primary tumors, mainly colorectal ...
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ژورنال
عنوان ژورنال: Sao Paulo Medical Journal
سال: 2009
ISSN: 1516-3180
DOI: 10.1590/s1516-31802009000100010