Genes Contributing to Hereditary Ovarian Cancer in Women and BRCA1/2 Wildtype Families

NCT03119285 | Completed

• 1 other identifier: STUDY00001583
• Study Type: observational
• Target: 34
• Locations: 1 country
• Sites: 1

Brief Summary

The investigators propose to test for non-BRCA1/2 mutations in new and existing families with hereditary ovarian cancer in order to better define penetrance and associated malignancies of rare ovarian cancer susceptibility genes. The hypothesis is at least one third of hereditary ovarian carcinoma families wildtype for BRCA1/2 can be solved using an updated version of BROCA (BROCA-HR) that targets 47 genes, including all known ovarian cancer genes and additional candidate genes in related pathways. The objective is to identify families with mutations in rare ovarian cancer susceptibility genes and test both affected and unaffected family members, thereby generating a rough estimate of penetrance for each mutated gene as well as identify new ovarian cancer susceptibility genes. The investigators also plan to enroll self identified African America women, who have been drastically under-represented in clinical cancer genetic testing programs and in OC susceptibility research.

Conditions

Ovarian Cancer

Keywords

ovarian cancer; BRCA1; BRCA2; BROCA

Outcome Measures

Primary Outcomes (1)

• Rate of deleterious germline mutations

  The rate of deleterious germline mutations in known ovarian cancer genes as identified using BROCA sequencing.

  10 years

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The investigators will enroll subjects from the following groups:1) African American women with ovarian carcinoma and 2) women with ovarian carcinoma and one of the following criteria: 1. first or second degree relative with ovarian carcinoma or 2. developed a second, independent primary invasive cancer or 3. been identified with a suspected, deleterious, non-BRCA 1/2 mutation

You may qualify if:

• ovarian cancer diagnosis with secondary criteria as noted above

You may not qualify if:

• age less than 18 yrs

Sponsors & Collaborators

• University of Washington: lead

Study Sites (1)

University of Washington

Seattle, Washington, 98195, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood will be obtained and constitutional DNA extracted. The investigators will obtain paraffin embedded tumor blocks from enrolled participants.

MeSH Terms

Conditions

Ovarian Neoplasms

Condition Hierarchy (Ancestors)

Endocrine Gland Neoplasms; Neoplasms by Site; Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Endocrine System Diseases; Gonadal Disorders

Study Officials

• Elizabeth Swisher, MD

  University of Washington

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor, Obstetrics & Gynecology

Study Record Dates

• First Submitted: October 31, 2016
• First Posted: April 18, 2017
• Study Start: April 1, 2013
• Primary Completion: January 31, 2022
• Study Completion: January 31, 2022
• Last Updated: February 3, 2022

Record last verified: 2022-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)