The Prevalence of BRCA Mutations Among Young Women with Triple-Negative Breast Cancer
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 alone.
Methods: We studied 54 women who were diagnosed with 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 family history criteria.
BRCA1 and BRCA2 screening was performed using a combination of fluorescent multiplexed-PCR analysis, BRCA1 exon-13 6kb duplication screening, the protein truncation test (PTT) and fluorescent multiplexed denaturing gradient gel electrophoresis (DGGE). All coding exons of BRCA1 were screened under this protocol.
All mutations were confirmed with direct sequencing.
Results: Five deleterious BRCA1 mutations and one deleterious BRCA2 mutation were identified in the 54 patients with early-onset, triple-negative breast cancer (11%).
Conclusions: Women with early-onset triple-negative breast cancer are candidates for genetic testing, even in the absence of a family history of breast or ovarian cancer.
Author: S R Young, Robert T Pilarski, Talia Donenberg, Charles Shapiro, Lyn S Hammond, Judtih Miller, Karen A Brooks, Stephanie Cohen, Beverly Tenenholz, Damini DeSai, Inuk Zandvakili, Robert Royer, Song Li and Steven A. Narod
Credits/Source: BMC Cance
Published on: 2009-03-19
Copyright by the authors listed above - made available via BioMedCentral (Open Access). Please
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