Objectives To describe the characteristics of all patients who were referred to the Breast and Gynecologic Hereditary Cancer Program.
Methods This is a retrospective, descriptive observational study. We obtained information from the electronic clinical records of all patients who were counseled within the program between january 2014 and may 2018. Here we describe their demographic characteristics, types of cancer and availability of genetic testing.
Results A total of 412 patients were referred for evaluation of breast and gynecologic cancer risk. The reason for referral was: a personal history of cancer (with or without family history) in 249 patients (60,4%), family history in 124 patients (30,1%), presence of a known mutation within the family in 27 patients (6.6%), and personal interest in 12 patients (2,9%). Among all patients, 51 (12.3%) were of Ashkenazi descent, and 88.3% met at least one criteria for genetic testing according to NCCN guidelines. Genetic testing was offered to 227 patients (55%). Complete sequencing of both BRCA 1 and 2 was recommended in 176 patients, while 37 patients underwent Ashkenazi panel testing, in 16 patients specific known family mutations were evaluated and 1 patient underwent a multigene panel. Mutations in BRCA 1 have been identified in 18,6% of patients, and in BRCA2 13,9%.
Conclusions Referral for genetic counseling and molecular testing has increased steadily, probably due to greater knowledge as well as improved accessibility and insurance coverage. It is crucial to continue creating awareness about the importance of diagnosis of cancer predisposition syndromes.
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