Open Access Highly Accessed Research article

The prevalence of BRCA1 mutations among young women with triple-negative breast cancer

SR Young1, Robert T Pilarski2, Talia Donenberg3, Charles Shapiro4, Lyn S Hammond5, Judith Miller6, Karen A Brooks1, Stephanie Cohen7, Beverly Tenenholz8, Damini DeSai9, Inuk Zandvakili10, Robert Royer10, Song Li10 and Steven A Narod10*

Author Affiliations

1 Department of Obstetrics and Gynecology, University of South Carolina School of Medicine, USA

2 Department of Internal Medicine, Clinical Cancer Genetics Program, Ohio State University, Columbus, OH, USA

3 Department of Obstetrics & GynecologyUniversity of Miami/Jackson Health System, Miami, Florida, USA

4 Department of Internal Medicine, Division of Hematology and Oncology, Ohio State University, USA

5 Division of Genetics, Medical University of South Carolina, Charleston, SC, USA

6 Carle Clinic Medical Genetics, University of Illinois College of Medicine, Urbana, IL, USA

7 Medical Genetics, St. Vincent Hospital, Indianapolis, IN, USA

8 Geisinger Medical Center, Danville, PA, USA

9 Joe Arrington Cancer Center, Lubbock, TX, USA

10 Women's College Research Institute, Department of Public Health, The University of Toronto, Toronto, Canada

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BMC Cancer 2009, 9:86  doi:10.1186/1471-2407-9-86

Published: 19 March 2009



Molecular screening for BRCA1 and BRCA2 mutations is now an established component of risk evaluation and management of familial breast cancer. Features of hereditary breast cancer include an early age-of-onset and over-representation of the 'triple-negative' phenotype (negative for estrogen-receptor, progesterone-receptor and HER2). The decision to offer genetic testing to a breast cancer patient is usually based on her family history, but in the absence of a family history of cancer, some women may qualify for testing based on the age-of-onset and/or the pathologic features of the breast cancer.


We studied 54 women who were diagnosed with high-grade, triple-negative invasive breast cancer at or before age 40. These women were selected for study because they had little or no family history of breast or ovarian cancer and they did not qualify for genetic testing using conventional family history criteria. BRCA1 screening was performed using a combination of fluorescent multiplexed-PCR analysis, BRCA1 exon-13 6 kb duplication screening, the protein truncation test (PTT) and fluorescent multiplexed denaturing gradient gel electrophoresis (DGGE). All coding exons of BRCA1 were screened. The two large exons of BRCA2 were also screened using PTT. All mutations were confirmed with direct sequencing.


Five deleterious BRCA1 mutations and one deleterious BRCA2 mutation were identified in the 54 patients with early-onset, triple-negative breast cancer (11%).


Women with early-onset triple-negative breast cancer are candidates for genetic testing for BRCA1, even in the absence of a family history of breast or ovarian cancer.