Concomitant BRCA1 and BRCA2 gene mutations in an Ashkenazi Jewish Woman with primary breast and ovarian cancer

Whitney A. Spannuth; Premal H. Thaker; Anil K. Sood

doi:10.1016/j.ajog.2007.01.026

Concomitant BRCA1 and BRCA2 gene mutations in an Ashkenazi Jewish Woman with primary breast and ovarian cancer

Whitney A. Spannuth, Premal H. Thaker, Anil K. Sood

Gynecological Oncology & Reproductive Medicine

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

We describe an unusual Ashkenazi Jewish patient with breast and epithelial ovarian cancer who was found to have simultaneous BRCA1 and BRCA2 mutations (BRCA1 5382insC and BRCA2 6174delT). While these mutations are known to occur individually in Ashkenazi Jewish women, concomitant BRCA1 and BRCA2 mutations in the same individual are rare.

Original language	English (US)
Pages (from-to)	e6-e9
Journal	American journal of obstetrics and gynecology
Volume	196
Issue number	4
DOIs	https://doi.org/10.1016/j.ajog.2007.01.026
State	Published - Apr 2007

Keywords

Ashkenazi Jewish female
BRCA mutation
ovarian carcinoma

ASJC Scopus subject areas

Obstetrics and Gynecology

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10.1016/j.ajog.2007.01.026

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title = "Concomitant BRCA1 and BRCA2 gene mutations in an Ashkenazi Jewish Woman with primary breast and ovarian cancer",

abstract = "We describe an unusual Ashkenazi Jewish patient with breast and epithelial ovarian cancer who was found to have simultaneous BRCA1 and BRCA2 mutations (BRCA1 5382insC and BRCA2 6174delT). While these mutations are known to occur individually in Ashkenazi Jewish women, concomitant BRCA1 and BRCA2 mutations in the same individual are rare.",

keywords = "Ashkenazi Jewish female, BRCA mutation, ovarian carcinoma",

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AU - Thaker, Premal H.

AU - Sood, Anil K.

PY - 2007/4

Y1 - 2007/4

N2 - We describe an unusual Ashkenazi Jewish patient with breast and epithelial ovarian cancer who was found to have simultaneous BRCA1 and BRCA2 mutations (BRCA1 5382insC and BRCA2 6174delT). While these mutations are known to occur individually in Ashkenazi Jewish women, concomitant BRCA1 and BRCA2 mutations in the same individual are rare.

AB - We describe an unusual Ashkenazi Jewish patient with breast and epithelial ovarian cancer who was found to have simultaneous BRCA1 and BRCA2 mutations (BRCA1 5382insC and BRCA2 6174delT). While these mutations are known to occur individually in Ashkenazi Jewish women, concomitant BRCA1 and BRCA2 mutations in the same individual are rare.

KW - Ashkenazi Jewish female

KW - BRCA mutation

KW - ovarian carcinoma

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ER -

Concomitant BRCA1 and BRCA2 gene mutations in an Ashkenazi Jewish Woman with primary breast and ovarian cancer

Abstract

Keywords

ASJC Scopus subject areas

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