Open AccessPathological Features of BRCA1/BRCA2 Mutation-Associated Breast Cancer: Implications for Diagnostics and Treatment
Author(s) -
Inga Melbārde-Gorkuša,
Ilze Štrumfa,
Andrejs Vanags,
Genādijs Trofimovičs,
Jānis Gardovskis
Publication year - 2011
Publication title -
latvijas k̦irurðigijas žurnāls/acta chirurgica latviensis
Language(s) - English
Resource type - Journals
eISSN - 2199-5737
pISSN - 1407-981X
DOI - 10.2478/v10163-012-0022-8
Subject(s) - medicine , breast cancer , pathological , oncology , germline mutation , mutation , cancer , brca2 protein , phenotype , immunohistochemistry , pathology , cancer research , gene , genetics , biology
Pathological Features of BRCA1/BRCA2 Mutation-Associated Breast Cancer: Implications for Diagnostics and Treatment BRCA1 and BRCA2 gene mutations are responsible for significant hereditary breast cancer burden. BRCA1/2 mutation-associated breast cancers (further BRCA1 or BRCA2 cancers) are distinctive not only by family history but also by the biological features of the tumour influencing both diagnostic possibilities and response to different treatment modalities. Distinctive morphology and immunohistochemical phenotype of hereditary breast cancers may help to identify patients who are likely to carry germ line mutations in BRCA1 or BRCA2 gene. The efficacy of specific treatment options can be predicted as well. Additionally, BRCA1 carcinomas have different histopathological manifestations from BRCA2 cancers. The cellular and molecular characteristics of BRCA1/2 breast cancer can explain the clinical data and provide prognostic and predictive information. Here, we discuss the peculiarities of breast cancer in BRCA1/2 mutation carriers having significant implications in the diagnostics, surgical approach and overall planning of treatment.