Identification of breast cancer (BC) patients (pts) fulfilling NCCN criteria for genetic risk assessment.

Abstract

e12537 Background: Five to 10% of BC pts develop the disease due to an inherited predisposition syndrome; BRCA1/2 germline mutations are most commonly associated. NCCN guidelines help identify a somewhat broad group of pts requiring further genetic evaluation and a narrower one, for whom genetic testing is specifically recommended. Aims: The identification of pts requiring genetic guidance and the description of subgroups fulfilling NCCN criteria for genetic testing, according to family history (FH), demographic and clinical features, in a group of unselected Greek BC pts. Methods: This is a retrospective, medical records analysis of all histologically confirmed, unselected BC pts who who visited our department (Medical Oncology Unit, Hippocratio Hospital) between 2009 and 2012. Demographic, histopathologic and family history data was extracted and analyzed. Results: Among 690 pts eligible for analysis, 682 of which (98.8%) of Greek ethnicity, 233 (33.7% ) had a HER2+ subtype, 311 (45%) ER/PR+, and 69 (10%) triple-negative. Information was incomplete for the remaining 76 (11.1%). General criteria for furthr genetic evaluation were fulfilled by 301 patient (43.6%). Two hundred and eighty-six of them (41.44% ) were diagnosed with BC at age ≤50 and 15 (2.17%) at age older than 50; 12 (1.7%) had at least 2 close relatives with BC and 3 (0.43%) had a personal history of ovarian cancer (OC). BRCA1/2 testing criteria were fulfilled by 259 pts (37.5%). 172 (24.9%) were diagnosed at age ≤45. Seventy-five (10.8%) were diagnosed at age 46-50, 22 of which (3.1%) had one close relative with BC or OC and 16 (2.3% ) had two close relatives with BC or OC. Thirty-six pts (5.2%) with triple negative BC were diagnosed at age <60, 16 of which (2.3%) < 45 years old. No pts had a personal or FamHx of sarcoma, thus did not fulfill the relevant TP53 testing criteria. However 7 (1%) were diagnosed under age 30. Only 11 patients (1.6%) underwent genetic testing, revealing 5 (0.7%) carriers of a deleterious BRCA1 mutation. Conclusions: Almost half pts with BC require further genetic evaluation. The need for genetic counseling services and insurance coverage of genetic testing is highlighted by this study.