Human Genetics

, Volume 116, Issue 6, pp 497–506 | Cite as

BRCA1 variants in a family study of African-American and Latina women

  • Roberta McKean-Cowdin
  • Heather Spencer Feigelson
  • Lucy Y. Xia
  • Celeste Leigh Pearce
  • Duncan C. Thomas
  • Daniel O. Stram
  • Brian E. Henderson
Original Investigation


We sequenced the entire coding region of BRCA1 to improve our understanding of the frequency and nature of BRCA1 variants in African-American and Latina women identified from a multiethnic cohort in Los Angeles, California. The study included 109 African-American and 140 Latina sibships from families with two or more cases of breast or ovarian cancer among first-degree relatives. BRCA1 was sequenced in 278 breast or ovarian cancer cases and 229 unaffected sisters. The proportion of cases with known disease-causing mutations was low (0.72, 95% confidence interval: 0–1.7%). In total, 33 sequence variants were identified, including two protein truncation mutations, one deletion, and six silent and 24 missense variants. Two novel rare variants were identified that appeared to act as benign polymorphisms. Four rare variants may be unique to women of African descent based on existing literature, and three have been described exclusively in Latina women. The frequency of common variants was similar for cases and controls, but the frequency of common variants for African-American women significantly differed from those previously described for Caucasian women. We believe this to be the largest study of high-risk African-American and Latina women sequenced for variants in the BRCA1 gene to date.


Breast Cancer Ovarian Cancer Missense Variant Male Breast Cancer Latina Woman 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



The authors thank the families participating in this study. They also gratefully acknowledge the contribution of Stacy Clark, Marina Herrera, Maria Torres, Mike Turin, and Katherine De Lellis to data collection and management, Hank Huang and Kristine R. Monroe for questionnaire and database design, Sheila Mangune for laboratory findings, and Kim Siegmund for consultions regarding statistical analyses. This work was supported by NCI grant nos. CA63464, CA54281 and CA77571.


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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Roberta McKean-Cowdin
    • 1
  • Heather Spencer Feigelson
    • 2
  • Lucy Y. Xia
    • 1
  • Celeste Leigh Pearce
    • 1
  • Duncan C. Thomas
    • 1
  • Daniel O. Stram
    • 1
  • Brian E. Henderson
    • 1
  1. 1.Department of Preventive MedicineUniversity of Southern California Keck School of Medicine, Norris Comprehensive Cancer CenterLos AngelesUSA
  2. 2.Department of Epidemiology and Surveillance Research American Cancer SocietyNational Home OfficeAtlantaUSA

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