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Genetics of Breast Cancer




This page gives an entry point to this complicated area of study.

The 'OMIM' and 'Ensemble' links (there are many more genetics databases available) provide a gateway to the vast world of human genetics.

The two most common genetic risk factors for breast cancer are the BRCA1 & 2 genes. There are many others that individually account for a tiny proportion of familial breast cancers.


BRCA1 & BRCA2




BRCA1:





Selected views of an example of a BRCA1-associated breast cancer
Click on images for further detail



Selected views of an example of a BRCA1-associated breast cancer Selected views of an example of a BRCA1-associated breast cancer Selected views of an example of a BRCA1-associated breast cancer

Selected views of an example of a BRCA1-associated breast cancer Selected views of an example of a BRCA1-associated breast cancer



BRCA2:




For a detailed breakdown of clinico-pathological assosciations between BRCA breast cancers compared with sporadic cancers see the linked table adapted from Eerola et al. Breast Cancer Research 2008 10:R17 doi:10.1186/bcr1863

The linked immunophenotype expression profile is acknowledged from Honrado et al (2005) with permission from the Nature Publishing Group.



Testing for BRCA1 & 2




Ataxia telangiectasia mutation (ATM)


This is a very uncommon cancer-associated hereditory condition which is associated with familial breast cancer. There are no specific morphological or immunophenotypic features in the pathology of these breast cancers to suggest the diagnosis which is usually made clinically.




Hereditary breast cancers not attributable to BRCA1/2 mutations



Prognosis


Most studies suggest that breast cancer survival for women with BRCA1 and BRCA2 mutations is similar to or worse than that of women without the mutations.


Selected references:


  1. Osin PP & Lakhani SR, The pathology of familial breast cancer: Immunohistochemistry and molecular analysis. Breast Cancer Res. 1999; 1: 36–40. Pubmed Link


  2. Honrado E, Benítez J, José Palacios J. The molecular pathology of hereditary breast cancer: genetic testing and therapeutic implications. Modern Pathology 2005; 18:1305–1320. doi:10.1038/modpathol.3800453


  3. Bane AL, MB, Beck, JC, Bleiweiss I MD et al. BRCA2 Mutation-associated Breast Cancers Exhibit a Distinguishing Phenotype Based on Morphology and Molecular Profiles From Tissue Microarrays. Am J Surg Pathol. 2007; 31:121-128


  4. Rennert G, Bisland-Naggan S, Barnett-Griness O, et al. Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations. N Engl J Med. 2007;357:115-23


  5. Eerola H, Heinonen M, Heikkilä P et al. Basal cytokeratins in breast tumours among BRCA1, BRCA2 and mutation-negative breast cancer families Breast Cancer Research 2008, 10:R17 doi:10.1186/bcr1863.



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