Epigenetic Factors in Hereditary Breast Cancer, pp. 211-229
Authors: Matilde Pensabene, Caterina Condello, Sabino De Placido, Alma Contegiacomo, Stefano Pepe, Clinical Unit of “Screening and Follow-Up for Hereditary and Familial Cancers” at the Department of “Molecular and Clinical Endocrinology and Oncology”, Azienda Ospedaliera Universitaria (AOU) “Federico II” in Naples, Italy, and others
Abstract: Germline mutations in BRCA1 and BRCA2 genes confer high risk of developing breast and ovarian cancer. Among individuals and families there is a strong cancer risk variation both for age of onset and for sites involved. The interaction among genetic and non genetic factors can explain differences in penetrance. There are several potential causes of variation. Among genetic causes the type and position of the mutation, allelic variations as well as mutation in other genes, known as modifying genes, can impact on risk variation and different correlation among genotype-phenotype. Different variables such as micro and macro-environmental factors (i.e., reproductive, hormonal anthropometric, dietary and environmental exposure factors) can also impact on cancer development in hereditary breast and/or ovarian cancer syndrome (HBOC). All together these factors can play the role of epigenetic factors that could modify breast cancer risk. Several case-control studies have been performed on the relation between breast cancer risk in BRCA1 and BRCA2 mutation carrier and other risk factors already evaluated for sporadic breast cancer.