Next-generation sequencing analysis of the tumorous and normal tissue detected a pathogenic germline mutation of the FAM175A gene and somatic mutations in BRCA2 and RAD51B (in both sarcoma and lymphoma specimens), and INPP4B and RICTOR (in lymphoma specimen only).
The methodologies proposed in this paper are applied to four gene expression data sets with multiple classes: (a) a hereditary breast cancer data set with (1) BRCA1-mutation, (2) BRCA2-mutation and (3) sporadic breast cancer samples, (b) an acute leukemia data set with (1) acute myeloid leukemia (AML), (2) T-cell acute lymphoblastic leukemia (T-ALL) and (3) B-cell acute lymphoblastic leukemia (B-ALL) samples, (c) a lymphoma data set with (1) diffuse large B-cell lymphoma (DLBCL), (2) B-cell chronic lymphocytic leukemia (BCLL) and (3) follicular lymphoma (FL) samples, and (d) the NCI60 data set with cell lines derived from cancers of various sites of origin.
Tumours of the stomach and cervix, as well as melanoma and leukaemia/lymphoma also occur in these pedigrees but the numbers are too low to determine whether they may be significantly associated with BRCA2 carrier status.