Breast malignant, males, children
Carcinoma subtypes
BRCA1 associated breast carcinoma

Author: Monika Roychowdhury, M.D. (see Authors page)

Revised: 26 September 2018, last major update March 2012

Copyright: (c) 2001-2018,, Inc.

PubMed search: BRCA1 associated [title] carcinoma breast

Cite this page: Roychowdhury, M. BRCA1 associated breast carcinoma. website. Accessed October 24th, 2018.
Definition / general
  • BRCA1 is a tumor suppressor gene at 17q21 (OMIM 113705); may interact with p53 (Cancer Lett 2008;268:137)
  • Germline mutations occur in 0.1% of Caucasians but in 2% of Ashkenazi Jews
  • BRCA1 associated breast carcinoma is not part of WHO breast classification
  • 12% of women referred for genetic testing have BRCA1 / BRCA2 deleterious mutations, rate is similar among different ethnicities (Cancer 2009;115:2222), but higher in Ashkenazi Jewish women
  • Inherited in autosomal dominant manner
  • BRCA1 mutations are present in 10% of women with (a) no family history, (b) breast cancer onset by age 40 years, and (c) high grade, triple negative tumors (BMC Cancer 2009;9:86)
  • 56% - 68% of BRCA1 carriers with germline mutations get breast cancer by age 70 years, 80% by age 80, but usually at ages 40 - 59 (BMC Cancer;2008:8;155)
  • Most effective predictor of BRCA1 mutations in breast cancer is age of onset < 50 years, HER2 status (negative), and either ER or PR status (negative), as compared with sporadic or non-BRCA1/BRCA2 cancers (Breast Cancer Res 2008;10:R17)
  • The Manchester scoring system is a risk assessment model which may be applied to evaluate an individuals risk of having a BRCA1 or BRCA2 mutation (J Med Genet 2009;46:811)
  • 60% chance of mutation if 4+ family members had breast cancer prior to age 60 years (Eur J Cancer 1999;35:1954)
  • Not cost effective to screen if only 10% risk of having a BRCA1 / 2 mutation (Value Health 2009;12:207)
Prognostic factors
Treatment and prognosis:
Case reports
  • BRCA1 carrier with primary ovarian carcinoma and metastases 3 and 6 years later, due to occult breast carcinoma (Hum Pathol 2004;35:629)
Microscopic (histologic) description
Microscopic (histologic) images
Images hosted on other servers:

ER alpha (left) and beta (right)

Various images and immunostains

Positive stains
Negative stains