22MO Homologous recombination gene mutations in uterine serous cancer: A phenotype of the hereditary breast and ovarian cancer syndrome?

To determine the prevalence of somatic homologous recombination (HR) gene mutations in uterine serous cancer (USC) and compare these with rates among high-grade ovarian (HGSOC). The American Association for Cancer Research’s (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE) database version 12.0 was queried via cBioPortal (http://genie.cbioportal.org). This is a publicly available, multi-institutional next-generation sequencing genomic profiles tumor samples. Mutation frequencies 8 deficiency (HRD) genes are reported compared between (HGSOC) samples using chi-squared or Fisher's exact tests. threshold used statistical significance two-sided alpha 0.05. Table: 22MOComparison mutation HR from cancerMutation frequency USCMutation HGSOCP-valueBRCA112/776, 1.5%313/3125, 10.0%p<0.001BRCA240/776, 5.2%218/3125, 7.0%p<0.001BRIP14/752, 0.5%57/2974, 1.9%p<0.01CHEK26/768, 0.8%19/3040, 0.6%0.82BARD112/664, 1.8%55/2615, 2.1%0.74RAD51C3/671, 0.4%27/2663, 1.0%0.25RAD51D4/671, 0.6%24/2658, 0.9%0.59PALB212/766, 1.6%37/3045, 1.2%0.58 Open table new tab Among 844 USC samples, most prevalent were BRCA2 (5.2%), BARD1 (1.8%), PALB2 (1.6%) BRCA1 (1.5%). When to 3304 HGSOC higher only found (10.0% vs 1.5%, p<0.001), (7.0% 5.2%, p<0.001) BRIP1 (1.9% 0.5%, p<0.01); however, there no difference BARD1, CHEK2, RAD51C, RAD51D PALB2. Genomic profiling demonstrates substantial rate conferring deficiency, similar those need genetically targeted clinical trials poly-ADP ribose polymerase (PARP) inhibitors patients USC, further research into germline genetic profile establish if this rare could be phenotype hereditary breast syndrome.