Abstract PS7-20: Identification of pathogenic mutations in otherwise unaffected patients through the CARE program
Authors: Mina Lida , Luiten Rebecca , Siettmann Jennifer , Loving Vilert 
Published: February 2021

Introduction Approximately one out of eight women are diagnosed with breast cancer in their lifetime. Women are recommended to begin annual mammograms at age 40 unless they are high-risk risk for breast cancer based on risk algorithms or positive germline mutations. Unfortunately, genetic testing and risk counseling are often not offered until a cancer diagnosis is already made. It is estimated that 5-10% of the general population has genetic predisposition to cancer. Purpose We established the Comprehensive Assessment, Risk & Education (CARE) Program at our mammogram center. Offered in partnership with Ambry Genetics, the CARE Program’s goal is to facilitate unaffected women in obtaining genetic testing and risk-counseling who otherwise may not have access to these services. Methods Patients undergoing a screening mammogram were given a tablet with a preprogrammed Progeny questionnaire. This questionnaire included questions on the patient’s gynecological history and family history. It calculates a Tyrer-Cuzick risk score and assesses National Comprehensive Cancer Network (NCCN) genetic testing criteria. Patients qualifying for genetic testing received pretest counseling by video and were offered genetic testing the same day as their mammogram appointment. Our genetic counselors performed follow-up counseling for patients receiving positive test results. Patients testing negative or inconclusive received a letter generated by Ambry. Our CARE program began on June 7th, 2019, and data was assessed through July 6th, 2020. Results 1,065 women met NCCN criteria for genetic testing. Of those women, 464 (43.6%) proceeded with testing, 387 (36.3%) declined testing and 214 (20.1%) were not able to obtain day-of genetic testing due to operational/personnel limitations. Of those who submitted tests, 403 (86.9%) completed testing and 61 tests were cancelled due to out of pocket costs or patient preference. Of the 403 patients who completed testing, 262 (65%) tested negative, 105 (26%) tested inconclusive and 35 (8.7%) tested positive. Positive test results were found in 15 genes (Table 1). Clinical Impact Over 13 months, we identified 35 patients at increased risk for cancer based on positive genetic test results. Based on these results, 6 (17%) patients were offered prophylactic surgeries, 16 (45.7%) were offered breast MRIs and enrollment in our high-risk breast clinic, 14 (40%) were offered increased colonoscopies and 9 (25.7%) were offered pancreatic screening based on family history. All patients were offered family variant testing. Conclusion Our experience integrating a screening questionnaire into our mammogram clinic shows that 44% of patients meeting NCCN criteria agree to do day of testing. Of those completing testing, 9% tested positive. This result is consistent with the national expected positive rate. Our CARE Program offers unaffected patients an opportunity to be tested in a comfortable low stress setting through the mammography suite. These patients and their families will now benefit from cancer prevention options that may not have been offered to them had they not been pre-emptively screened by our program.

Table1. Positive test results for 35 patients.MutationNumber of patients identified (%)CHEK29 (25.7)MUTYH5 (14.2)HOXB134 (11.4)ATM3 (8.6)APC2 (5.7)BARD12 (5.7)PALB22 (5.7)BRCA21 (2.9)BRIP11 (2.9)MRE11A1 (2.9)MSH21 (2.9)MSH61 (2.9)RAD501 (2.9)RAD51D1 (2.9)TP531 (2.9)

Citation Format: Lida Mina, Rebecca Luiten, Jennifer Siettmann, Vilert Loving. Identification of pathogenic mutations in otherwise unaffected patients through the CARE program [abstract]. In: Proceedings of the 2020 San Antonio Breast Cancer Virtual Symposium; 2020 Dec 8-11; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2021;81(4 Suppl):Abstract nr PS7-20.