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Report for Clinical Trial NCT04009148

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome

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.

NCT04009148 BRCA-Mutated Ovarian Carcinoma BRIP1 Gene Mutation MSH2 A636P MLH1 Gene Mutation MSH6 Gene Mutation PMS2 Gene Mutation EPCAM RAD51C Gene Mutation
MeSH:Hereditary Breast and Ovarian Cancer Syndrome

1 Interventions

Name: CASCADE genetic screening

Description: Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives
Type: Other
Group Labels: 2

Relative Declines Genetic Testing Successful Cascade Testing


Primary Outcomes

Description: Number of relatives with successful cascade testing

Measure: Establishing the CASCADE Cohort

Time: 1 Year

Time Perspective: Prospective

Family-Based


There is one SNP

SNPs


1 A636P

BRCA-Mutated Ovarian Carcinoma BRIP1 Gene Mutation MSH2 A636P MLH1 Gene Mutation MSH6 Gene Mutation PMS2 Gene Mutation EPCAM RAD51C Gene Mutation 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 ---



HPO Nodes