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Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network.

Authors
  • Weitzel, Jeffrey N
  • Clague, Jessica
  • Martir-Negron, Arelis
  • Ogaz, Raquel
  • Herzog, Josef
  • Ricker, Charité
  • Jungbluth, Chelsy
  • Cina, Cheryl
  • Duncan, Paul
  • Unzeitig, Gary
  • Saldivar, J Salvador
  • Beattie, Mary
  • Feldman, Nancy
  • Sand, Sharon
  • Port, Danielle
  • Barragan, Deborah I
  • John, Esther M
  • Neuhausen, Susan L
  • Larson, Garrett P
Type
Published Article
Journal
Journal of Clinical Oncology
Publisher
American Society of Clinical Oncology
Publication Date
Jan 10, 2013
Volume
31
Issue
2
Pages
210–216
Identifiers
DOI: 10.1200/JCO.2011.41.0027
PMID: 23233716
Source
Medline
License
Unknown

Abstract

BRCA mutations were prevalent in the largest study of Hispanic breast and/or ovarian cancer families in the United States to date, and a significant proportion were large rearrangement mutations. The high frequency of large rearrangement mutations warrants screening in every case. We document the first Mexican founder mutation (BRCA1 ex9-12del), which, along with other recurrent mutations, suggests the potential for a cost-effective panel approach to ancestry-informed GCRA.

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