Literature DB >> 17403394

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

Whitney A Spannuth1, Premal H Thaker, Anil K Sood.   

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.

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Year:  2007        PMID: 17403394     DOI: 10.1016/j.ajog.2007.01.026

Source DB:  PubMed          Journal:  Am J Obstet Gynecol        ISSN: 0002-9378            Impact factor:   8.661


  3 in total

1.  Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population.

Authors:  O Lavie; S Narod; F Lejbkowicz; S Dishon; Y Goldberg; O Gemer; G Rennert
Journal:  Ann Oncol       Date:  2010-10-05       Impact factor: 32.976

2.  Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.

Authors:  Magdalena Koczkowska; Monika Zuk; Adam Gorczynski; Magdalena Ratajska; Marzena Lewandowska; Wojciech Biernat; Janusz Limon; Bartosz Wasag
Journal:  Cancer Med       Date:  2016-05-11       Impact factor: 4.452

3.  Five Italian Families with Two Mutations in BRCA Genes.

Authors:  Maria Teresa Vietri; Gemma Caliendo; Giovanna D'Elia; Marianna Resse; Amelia Casamassimi; Pellegrino Biagio Minucci; Concetta Dello Ioio; Michele Cioffi; Anna Maria Molinari
Journal:  Genes (Basel)       Date:  2020-12-03       Impact factor: 4.096

  3 in total

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