Identification of BRCA mutations in ovarian cancer patients may help guide cancer therapies, prognosis, post-operative screening, and other preventative treatments beyond the initial diagnosis. Likewise, genetic testing of ovarian cancer patients for these germline mutations provides invaluable information for families regarding cancer risk, genetic testing, and subsequently indication for risk-reducing surgery. Cascade testing provides a unique opportunity to identify carriers of a deleterious BRCA mutation which can allow for surgical and chemoprevention of prevention of ovarian cancer. There is currently no literature on the rates of referral for the family members.
Name: CASCADE genetic screeningDescription: Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relativesType: Other
Successful Cascade Testing Relative Declines Genetic Testing
Description: Number of relatives with successful cascade testingMeasure: Establishing the CASCADE Cohort Time: 1 Year
There is one SNP
BRCA-Mutated Ovarian Carcinoma BRIP1 Gene Mutation MSH2 A636P MLH1 Gene Mutation MSH6 Gene Mutation PMS2 Gene Mutation EPCAM RAD51C Gene Mutation Ovarian Neoplasms Carcinoma, Ovarian Epithelial Hereditary Breast and Ovarian Cancer Syndrome The objective of this study is to perform a pilot study, offering referral to a genetic counseling and genetic testing for family members of a probands known to have a mutation in BRCA1 or BRCA2. --- A636P ---