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2004 ; 2
(3
): 131-8
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The pathology of hereditary breast cancer
#MMPMID20233467
Honrado E
; Benítez J
; Palacios J
Hered Cancer Clin Pract
2004[Jul]; 2
(3
): 131-8
PMID20233467
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Several studies have demonstrated that familial breast cancers associated with
BRCA1 or BRCA2 germline mutations differ in their morphological and
immunohistochemical characteristics. Cancers associated with BRCA1 are poorly
differentiated infiltrating ductal carcinomas (IDCs) with higher mitotic counts
and pleomorphism and less tubule formation than sporadic tumours. In addition,
more cases with the morphological features of typical or atypical medullary
carcinoma are seen in these patients. Breast carcinomas from BRCA2 mutation
carriers tend to be of higher grade than sporadic age-matched controls. Regarding
immunophenotypic features. BRCA1 tumours have been found to be more frequently
oestrogen receptor- (ER) and progesterone receptor-(PR) negative, and
p53-positive than age-matched controls, whereas these differences are not usually
found in BRCA2-associated tumours. A higher frequency and unusual location of p53
mutations have been described in BRCA1/2 carcinomas. Furthermore, BRCA1- and
BRCA2-associated breast carcinomas show a low frequency of HER-2 expression.
Recent studies have shown that most BRCA1 carcinomas belong to the basal cell
phenotype, a subtype of high grade, highly proliferating ER/HER2-negative breast
carcinoma characterized by the expression of basal or myoepithelial markers, such
as basal keratins, P-cadherin, EGFR, etc. This phenotype occurs with a higher
incidence in BRCA1 tumours than in sporadic carcinomas and is rarely found in
BRCA2 carcinomas. Hereditary carcinomas not attributable to BRCA1/2 mutations
have phenotypic similarities with BRCA2 tumours, but tend to be of lesser grade
and lower proliferation index. The pathological features of hereditary breast
cancer can drive specific treatment and influence the process of mutation
screening.
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