Older-onset hereditary breast and ovarian cancer (HBOC) syndrome patients and clinical value of germline multigene testing.

Abstract

Background: Germline genetic testing referral of HBOC syndrome and relevant cancer patients is being undertaken using criteria that maximize the probability of finding a disease-causing variant and its actionability. In young onset breast cancer (BC, #50 y), invasive epithelial nonmucinous ovarian cancer, metastatic or node positive prostate cancer and exocrine pancreaticcancer, germline genetic testing is universally accepted. Genetic testing in older onset BC patients (.50 y) uses strict clinical criteria like triple negative phenotype or bilateral BC and the presence of family history (FH). This study investigated genetic differences between youngand older-onset HBOC patients to estimate whether the threshold of the likelihood of finding a disease-causing variant can be lowered.