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

NYU Langone Health

Status

Active, not recruiting

Conditions

MSH2 A636P

PMS2 Gene Mutation

RAD51C Gene Mutation

BRIP1 Gene Mutation

MLH1 Gene Mutation

EPCAM

BRCA-Mutated Ovarian Carcinoma

MSH6 Gene Mutation

Treatments

Other: CASCADE genetic screening

Study type

Observational

Funder types

Other

Identifiers

NCT04009148

17-01135

Details and patient eligibility

About

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.

Full description

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. In addition to BRCA1 and BRCA2, the NCCN suggests consideration of risk-reducing surgery for mutations in BRIP1, MSH2, MLH1, MSH6, PMS2, EPCAM, RAD51C, RAD51D, investigators will include these subjects as well in the study.

Enrollment

118 patients

Sex

All

Ages

18 to 99 years old

Volunteers

Accepts Healthy Volunteers

Inclusion criteria

All subjects must have a diagnosis of epithelial ovarian cancer, Fallopian tube caner or primary peritoneal cancer with a known pathogenic genetic mutation.
All subjects must agree to participate.
All subjects must have first or second degree relatives who have not been diagnosed with the same genetic mutation.
A previous diagnosis of cancer in the subject's first or second degree relative is allowed.

Exclusion criteria

Subjects whose first and/or second degree relatives have already been tested with the subject's known mutations, and no other viable family members are available for testing.