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Breast-malignant, males, children
BRCA2 associated breast carcinoma
Author: Nat Pernick, M.D, PathologyOutlines.com, Inc.
Reviewer: Daniel Visscher, M.D., University of Michigan Hospitals, February 2009 (see Reviewers page)
Revised: 9 September 2009
Last major update: September 2009
Copyright: (c) 2002-2009, PathologyOutlines.com, Inc.
Definition
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● BRCA2 associated breast cancer is not part of WHO breast classification
● BRCA2 is a tumor suppressor gene at 13q12-13 (OMIM 600185)
Epidemiology
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● 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
● 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)
Case reports
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● Invasive cancer 33 years after prophylactic bilateral subcutaneous mastectomies (World J Surg Oncol 2005;3:52)
Microscopic description
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● Usually invasive ductal carcinoma, no special type
● High grade features and pushing tumor margin (AJSP 2007;31:121)
● High incidence of DCIS (Cancer Prev Res (Phila Pa) 2009;2:122)
Micro images
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Various images Various immunostains
Positive stains
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● ER; usually luminal phenotype (ER+, HER2-)
● bcl1/cyclinD1 (Mod Path 2008;21:1262)
Negative stains
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● CK5 (usually), HER2 (usually)
Additional references
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● Archives 1999;123:1023, Wikipedia, National Cancer Institute
End of Breast – Malignant, Males, Children > BRCA2 associated breast carcinoma
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