BRCA2 associated breast carcinoma

Breast malignant, males, children
Carcinoma subtypes
BRCA2 associated breast carcinoma

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

Revised: 26 December 2016, last major update April 2012

Copyright: (c) 2001-2016, PathologyOutlines.com, Inc.

PubMed search: BRCA2 associated [title] carcinoma breast

Table of Contents

Cite this page: BRCA2 associated breast carcinoma. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/breastmalignantbrca2.html. Accessed July 14th, 2017.

Definition / general

BRCA2 associated breast cancer is not part of WHO breast classification
BRCA2 is a tumor suppressor gene at 13q12-13 (OMIM 600185)
See also Stains chapter

Epidemiology

12% of women referred for genetic testing have BRCA1 / BRCA2 deleterious mutations, rate is similar among different ancestries (Cancer 2009;115:2222), but higher in Ashkenazi Jewish women
Manchester scoring system assesses individual risk of BRCA1 / 2 mutations (J Med Genet 2009;46:811)
60% - 75% with germline mutations get breast cancer by age 70, 88% at age 80 (BMC Cancer 2008;8:155), but usually by age 50
Patients also have higher risk of cancers of ovary (39% - 63%), bone, pharynx, prostate, pancreas (J Med Genet 2005;42:711); also other organs
Slightly more frequent in black (2.6%) versus white (2.1%) American patients (Cancer Res 2006;66:8297)
For patients with 10% or lower risk of BRCA1 / 2 mutation, genetic screening is not cost effective (Value Health 2009;12:207)

Case reports

Invasive cancer 33 years after prophylactic bilateral subcutaneous mastectomies (World J Surg Oncol 2005;3:52)

Microscopic (histologic) description

Usually invasive ductal carcinoma, no special type
High grade features and pushing tumor margin (Am J Surg Pathol 2007;31:121)
High incidence of DCIS (Cancer Prev Res (Phila) 2009;2:122)

Microscopic (histologic) images

Images hosted on other servers:

Nature.com images:

Typical histological patterns

Various immunostains

Positive stains

ER; usually luminal phenotype (ER+, HER2-)
bcl1 / cyclinD1 (Mod Pathol 2008;21:1262)

Negative stains

CK5 (usually), HER2 (usually)

Additional references

Arch Pathol Lab Med 1999;123:1023, Wikipedia, National Cancer Institute