Germline Testing for Patients With BRCA1/2 Mutations on Somatic Tumor Testing JNCI CANCER SPECTRUM Vlessis, K., Purington, N., Chun, N., Haraldsdottir, S., Ford, J. M. 2020; 4 (1): pkz095


The National Comprehensive Cancer Network (NCCN) recommends germline testing for pathogenic BRCA1/2 mutations identified by somatic tumor sequencing. The aim of this study was to explore whether patients at Stanford with somatic BRCA1/2 mutations were recommended germline testing in accordance with NCCN guidelines.We retrospectively collected all Stanford patients with BRCA1/2 mutations found by tumor sequencing. Medical records were reviewed for each patient to identify those recommended germline testing. A multivariable logistic regression model was fit associating baseline characteristics with whether or not a recommendation was made.Of 164 participants, 51 (31.1%) had no recommendation for germline testing. Of the 97 available germline-testing results, 54 (55.7%) were positive for pathogenic BRCA1/2 mutations. After adjusting for possible confounders, patients with genitourinary cancer (odds ratio [OR] = 0.03, 95% confidence interval [CI] = 0.00 to 0.03; P?=?.003), lung cancer (OR = 0.04, 95% CI = 0.01 to 0.21; P?

View details for DOI 10.1093/jncics/pkz095

View details for Web of Science ID 000523291600017

View details for PubMedID 32259017

View details for PubMedCentralID PMC7043298