Germline large genomic alterations on 7q in patients with multiple primary cancers

摘要: Patients with multiple primary cancers (MPCs) are suspected to have a hereditary cancer syndrome. However, only small proportion may be explained by mutations in high-penetrance genes. We investigate two unrelated MPC patients that met Hereditary Breast and Ovaria Cancer criteria, both presenting triple negative breast tumors no BRCA1, BRCA2 TP53 Germline rearrangements on chromosome 7q, involving over 40 Mb of the same region, were found patients: one mosaic loss (80% cells) other cnLOH (copy-neutral heterozygosity) secondary maternal allele duplication. Five children tested had alterations 7q. The shared 330 genes common 7q22.1-q34, including several tumor suppressor (TSGs) previously related risk imprinted analysis BC from patient revealed gain 7q translated for over-expressed cancer-related involvement TSGs genes, mapped has potential being associated risk, as well progression. To our knowledge, this is first description MPCs harbor constitutive large