SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT04009148

Developed by Shray Alag, 2019.
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: Ovarian Neoplasms Carcinoma, Ovarian Epithelial Hereditary Breast and Ovarian Cancer Syndrome
HPO: Ovarian neoplasm

1 Interventions

Name: CASCADE genetic screening

Description: Family-based cohort of mutation carriers, blood relatives who test negative, and untested blood relatives

Type: Other

Successful Cascade Testing Relative Declines Genetic 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 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 ---



HPO Nodes


HPO:
Ovarian neoplasm
Genes 63
RAD51 RAD51C PMS1 RAD51D CDKN2A KRAS SOX9 TGFBR2 FLI1 MRE11 MSH6 PMS2 MLH3 BRIP1 DMRT3 WWOX BRCA1 LMNA BRCA2 INHBA PIK3CA VAMP7 NR0B1 WRN CHEK2 GATA4 WT1 PTCH2 BARD1 MLH1 WNT10A NBN AKT1 C11ORF95 PRKN SRY EWSR1 RELA NR5A1 MSH2 MSH3 FGFR2 KEAP1 IDH1 IDH2 CTNNB1 PTCH1 PTEN SUFU CDH1 EPCAM DICER1 STAG3 RNF43 PALLD PALB2 OPCML TP53 MAP3K1 ZFPM2 SMAD4 FAN1 RAD50