Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer.

Familial cancer syndromes, which are commonly caused by germline mutations in oncogenes and tumor suppressor genes, are generally considered to be the cause of primary multiple malignant neoplasias (PMMNs). Using targeted genomic sequencing, we screened for eight germline mutations: 185delAG, T300G, 2080delA, 4153delA, 5382insC, 6174delT, 1100delC, and C1642T, which provoke the majority of cases of hereditary breast and ovary cancer syndrome (HBOC), in genomic (blood) DNA from 60 women with PMMNs, including breast (BC) and/or ovarian cancer(s) (OC). Pathogenic allelic forms were discovered in nine samples: in seven instances, it was 5382insC, and in the following two, 4153delA and T300G.