MedTrace Logo

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

NCT04009148 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 118

Last updated 2026-05-14

No results posted yet for this study

Summary

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.

Conditions

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

Interventions

OTHER

CASCADE genetic screening

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

Sponsors & Collaborators

Principal Investigators

  • Bhavana Pothuri, MD · New York Langone Medical Center

Eligibility

Min Age
18 Years
Max Age
99 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-03-01
Primary Completion
2025-06-11
Completion
2027-04-23

Countries

  • United States

Study Locations

More Related Trials

Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04009148 on ClinicalTrials.gov