Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance
نویسندگان
چکیده
منابع مشابه
Recent advances in understanding Lynch syndrome
Colorectal cancer affects about 4.4% of the population and is a leading cause of cancer-related death in the United States. Approximately 10% to 20% of cases occur within a familial pattern, and Lynch syndrome is the most common hereditary colorectal cancer syndrome. Lynch syndrome is a hereditary predisposition to forming colorectal and extracolonic cancers, caused by a germline mutation in on...
متن کاملUnderstanding Lynch syndrome: implications for nursing.
Colorectal cancer (CRC) is the second-leading cause of cancer-related death in the United States. Approximately 10% of CRC is hereditary, and hereditary nonpolyposis CRC (HNPCC), or Lynch syndrome I, is the most common form. Lynch syndrome I is characterized by onset at an early age, poor differentiation, predominance of proximal tumors, and an excess of synchronous and metachronous tumors. In ...
متن کاملFunctional assays for classification of BRCA2 variants of uncertain significance.
The assessment of the influence of many rare BRCA2 missense mutations on cancer risk has proved difficult. A multifactorial likelihood model that predicts the odds of cancer causality for missense variants is effective, but is limited by the availability of family data. As an alternative, we developed functional assays that measure the influence of missense mutations on the ability of BRCA2 to ...
متن کاملClassifying MMR variants: time for revised nomenclature in Lynch syndrome.
Inactivating germline mutations in DNA mismatch repair (MMR) genes are diagnostic for Lynch syndrome. However, the clinical significance of missense variants is uncertain. A threshold level of compromised MLH1 expression, correlating with greater protein instability and MMR functional defect, has been identified to help classify the pathogenicity of missense variants.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Genetic Counseling
سال: 2017
ISSN: 1059-7700,1573-3599
DOI: 10.1007/s10897-017-0066-y