Genetic and genomic factors in breast cancer

Lee P Shulman*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter


Breast cancer is the result of a complex interaction of genetic, genomic, and environmental factors that result in the initiation and progression of malignancy. While certain germline (germinal) inherited genes have been identified that, when altered or mutated, predispose that individual to develop breast cancer and other associated malignancies such as ovarian epithelial cancer (OEC), the majority of breast cancer cases, even those occurring in women with multiple affected family members, are not associated with mutations of genes currently linked to cancer predisposition syndromes. Of interest is that women who develop breast cancer and have identified germinal gene mutations generally do not have a vastly different disease course or prognosis than those who develop sporadic breast cancer and have no detectable gene mutations. However, specific alterations of the somatic genome (i.e., the genome of the actual tumor tissue as opposed to the germinal genome found in all the nucleated cells of an individual) have been identified that better predict prognosis and the relative success or failure of specific therapeutic interventions.

Original languageEnglish (US)
Title of host publicationManagement of the Patient at High Risk for Breast Cancer
PublisherSpringer New York
Number of pages19
ISBN (Electronic)9781461458913
ISBN (Print)1461458900, 9781461458906
StatePublished - Nov 1 2013

ASJC Scopus subject areas

  • Medicine(all)

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