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BMC Cancer

, 9:86

First Online: 19 March 2009Received: 11 June 2008Accepted: 19 March 2009DOI: 10.1186-1471-2407-9-86

Cite this article as: Young, S., Pilarski, R.T., Donenberg, T. et al. BMC Cancer 2009 9: 86. doi:10.1186-1471-2407-9-86

Abstract

BackgroundMolecular 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.

MethodsWe 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.

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

ConclusionWomen 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.

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Autor: SR Young - Robert T Pilarski - Talia Donenberg - Charles Shapiro - Lyn S Hammond - Judith Miller - Karen A Brooks - Step

Fuente: https://link.springer.com/







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