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Breast malignant, males, children

Carcinoma subtypes

BRCA2 associated breast carcinoma

Reviewer: Monika Roychowdhury, M.D. (see Reviewers page)
Revised: 15 November 2012, last major update April 2012
Copyright: (c) 2001-2012, 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)
● See also Stains chapter

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

Micro description
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● 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 Pa) 2009;2:122)

Micro images
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Typical histological patterns


Various immunostains

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

Negative stains
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● CK5 (usually), HER2 (usually)

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

End of Breast malignant, males, children > Carcinoma subtypes > BRCA2 associated breast carcinoma

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