Abstract
BackgroundGermline mutations in the BRCA1 gene predispose to the development of breast cancer, exhibiting a specific histological phenotype. Identification of possible hallmarks of these tumors is important for selecting patients for genetic screening and provides inside in carcinogenetic pathways.Since BRCA1-associated breast cancers have pushing borders that prevent them from easily reaching vessels and are often of the medullary (like) type that is known to have a low rate of lympho-vascular invasion (LVI), we hypothesized that absence of LVI could characterize BRCA1 related breast cancer.MethodsA population of 68 BRCA1 related invasive breast cancers was evaluated for LVI by an experienced breast pathologist blinded to mutation status, and compared to a control group matched for age, grade and tumor type.ResultsLVI was present in 25.0% of BRCA1 related cases, compared to 20.6% of controls (P = 0.54, OR = 1.29, CI 0.58-2.78).ConclusionLVI is frequent in BRCA1 germline mutation related breast cancers, but seems to occur as often in sporadic controls matched for age, grade and tumor type. Apparently, these hereditary cancers find their way to the blood and lymph vessels despite their well demarcation and often medullary differentiation.
Highlights
Germline mutations in the BRCA1 gene predispose to the development of breast cancer, exhibiting a specific histological phenotype
BRCA1 related patients more frequently had negative lymph nodes (67.2% compared to 50.8% in controls), but this difference was not statistically significant (P = 0.06)
Expansive growth pattern was present in 47% of BRCA1 related tumors, compared to 41% in sporadic controls (n.s.)
Summary
Germline mutations in the BRCA1 gene predispose to the development of breast cancer, exhibiting a specific histological phenotype. It has been estimated that 5.3% of breast cancers occurring in women under forty years and 1.1% of breast cancers in women from 50 to 70 years are due to mutations in either of these genes[1] Both genes are considered to be tumor suppressor genes that play a role in DNA repair [2,3,4,5,6] and mammary stem cell differentiation[7,8]. BRCA1 related breast carcinomas have a distinct histopathological phenotype. They have been shown to be more often of the ductal and medullary type, of high grade and to show a high mitotic activity index (MAI)
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