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Clinical Significance of Germline BRCA Mutations

Open (Enrolling)
Breast Cancer

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Trial Information

Clinical Significance of Germline BRCA Mutations

The objectives of this study are to characterize the clinical significance of mutations of
established breast and ovarian cancer susceptibility genes. This will include analysis of
the penetrance and spectrum of mutations of BRCA1 and BRCA2 alterations. Sequencing analysis
for BRCA1 mutations has been performed on a subset of 60 cases in this protocol as part of
the "Beta testing" program of Myriad Genetics, Inc. Follow-up of BRCA1 and BRCA2
heterozygotes will allow estimates of penetrance as well as establish the efficacy of
surgical interventions, including prophylactic mastectomy, and other preventive strategies,
as well as the effect of hormonal, environmental, or treatment induced factors in mediating
breast and ovarian cancer risk. With respect to treatment induced risks, it is possible that
such therapies as radiation, may actually induce second somatic mutations in both BRCA and
other genes.

Inclusion Criteria:

- Families referred for genetic counseling consultation at Memorial Hospital

- Individuals self-referred or physician referred for genetic counseling due to a
concern about increased risk for breast cancer, regardless of family history or
ethnic origin.

- Individuals enrolled in MSK protocol 97-029 "Germline BRCA1 and BRCA2 mutations in
Jewish Women Affected by Breast Cancer" who wish to have full sequencing or who wish
to have commercial testing in addition to testing done as part of that study.

- Individuals who present for genetic counseling consultation at Memorial Hospital
after undergoing genetic testing at an outside institution.

- Member of a family with breast cancer who wishes to provide a DNA sample for research

Exclusion Criteria:


Type of Study:


Study Design:

Observational Model: Case-Only, Time Perspective: Prospective

Outcome Measure:

To obtain DNA samples for the purpose of estimating relative risk of BRCA1 and BRCA2 mutations for breast cancer incidence in families with breast or ovarian cancer.

Outcome Time Frame:

2 years

Safety Issue:


Principal Investigator

Kenneth Offit, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Memorial Sloan-Kettering Cancer Center


United States: Institutional Review Board

Study ID:




Start Date:

July 1996

Completion Date:

July 2014

Related Keywords:

  • Breast Cancer
  • Breast Neoplasms



Memorial Sloan-Kettering Cancer Center New York, New York  10021