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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03119285
Recruitment Status : Recruiting
First Posted : April 18, 2017
Last Update Posted : December 19, 2020
Information provided by (Responsible Party):
Elizabeth Swisher, University of Washington

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.

Condition or disease
Ovarian Cancer

Detailed Description:
There is more to hereditary ovarian cancer than the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 (BRCA1/2). Next generation sequencing techniques have made it possible to sequence multiple candidate ovarian carcinoma susceptibility genes simultaneously. The King Laboratory has developed a targeted capture and massively parallel sequencing test called BROCA to evaluate mutations in known or suspected breast and ovarian cancer genes. In a prospective series of 360 unselected women with ovarian carcinoma, the investigators found that nearly one fourth of women carried mutations in one of 13 genes, and mutations in genes other than BRCA1 and BRCA2 accounted for 26% of all inherited mutations. While BROCA and similar gene panels are already in clinical use, little is known about the relative risks of carrying these non-BRCA1/2 mutations, making it difficult to counsel unaffected family members and develop optimum prevention protocols.

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Study Type : Observational
Estimated Enrollment : 150 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Genes Contributing to Hereditary Ovarian Cancer in Women and BRCA1/2 Wildtype Families
Study Start Date : April 2013
Estimated Primary Completion Date : July 2023
Estimated Study Completion Date : July 2023

Primary Outcome Measures :
  1. Rate of deleterious germline mutations [ Time Frame: 10 years ]
    The rate of deleterious germline mutations in known ovarian cancer genes as identified using BROCA sequencing.

Biospecimen Retention:   Samples With DNA
Blood will be obtained and constitutional DNA extracted. The investigators will obtain paraffin embedded tumor blocks from enrolled participants.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

Inclusion Criteria:

  • ovarian cancer diagnosis with secondary criteria as noted above

Exclusion Criteria:

  • age less than 18 yrs

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03119285

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Contact: Jessica Mandell, MS, CGC 540-389-5328

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United States, Washington
University of Washington Recruiting
Seattle, Washington, United States, 98195
Contact: Enna Manhardt, BS    206-616-3913   
Principal Investigator: Elizabeth Swisher, MD         
Sponsors and Collaborators
University of Washington
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Principal Investigator: Elizabeth Swisher, MD University of Washington
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Responsible Party: Elizabeth Swisher, Professor, Obstetrics & Gynecology, University of Washington Identifier: NCT03119285    
Other Study ID Numbers: STUDY00001583
First Posted: April 18, 2017    Key Record Dates
Last Update Posted: December 19, 2020
Last Verified: December 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Elizabeth Swisher, University of Washington:
ovarian cancer
Additional relevant MeSH terms:
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Ovarian Neoplasms
Carcinoma, Ovarian Epithelial
Endocrine Gland Neoplasms
Neoplasms by Site
Ovarian Diseases
Adnexal Diseases
Genital Neoplasms, Female
Urogenital Neoplasms
Endocrine System Diseases
Gonadal Disorders
Neoplasms, Glandular and Epithelial
Neoplasms by Histologic Type