Abstract P2-09-17: Family communication and attitude of patients with breast cancer toward positive pathogenic <i>BRCA1</i> or <i>BRCA2</i> mutations. A regional perspective
Authors: Rawan Mustafa, Khawla Ammar, Rana Damsees, Maryam El-Atrash, Rayan Bater, Sama Almasri, Faris Tamimi, Lama Abujamous, Hikmat Abdel-Razeq
Journal: Cancer Research (2022)

Abstract Background: Since the discovery of breast cancer susceptibility genes BRCA1 &amp; BRCA2 and the availability of genetic testing, a considerable amount of research has been conducted to evaluate rates of genetic test acceptance and to understand the psychological and behavioural impact of genetic test results on both patients and their family members. This study aims to explore the experience of women who tested positive for a cancer-predisposing gene, and to identify risk reduction interventions patients had or planning to have and study if patients communicated genetic test results with at-risk family members and intervention made by the family members. Methods: A questionnaire was designed to assess socio-demographic factors, personal and family history of cancer, genetic test results and family notification of testing, and subsequent testing in relatives. Participants were invited to participate in the study during their visit to their oncologist clinic, in addition to patients that were invited via Teleclinic using different meeting platforms. Results: Ninety-nine patients with the pathogenic BRCA 1 or BRCA 2 mutations, who were diagnosed with breast cancer between the years 2005 and 2020, were enrolled in the study. The Mean age of participants was 45 years (range from 27 to 77 years). The patients reported different emotional reactions to the positive results of cancer genetic testing; 39 (39%) experienced feelings of anxiety, 69 (69%) were afraid about the risk of their children carrying the disease. While 24 (24%) of participants reported they felt comforted because they can take preventive measures for them and their family members and only 5 (5%) were worried about health insurance coverage. Thirteen (13%) of the patients reported that their social status had been affected by the genetic testing results. The majority (n=74, 74%) believed in the importance of communicating the results with their families. Ninety-eight (98%) patients have informed their family members of the results and only 1 (1%) did not inform anyone of the results. In total, 922 relatives were informed of the results of genetic testing and only 31 (3.3%) underwent genetic testing in response. A total of 379 first degree female relatives (mother, sister, and daughter) were informed about the genetic testing results and only 24 (6.6%) underwent genetic testing for BRCA mutations and only 8 (2%) patients underwent a prophylactic mastectomy. The reasons that prevented the informed family members from undergoing the genetic testing were diverse. As reported by the patients participating in the study, the cost of testing was the most reported reason in 54% of the time. And 52 patients (52%) considered fear from having a positive test as the main reason. The social stigma of carrying a cancer gene was also a factor in 16% of cases. Conclusion: Despite the high rate of communicating BRCA results with family members, there is lack of awareness of the proper preventive measures to be followed to decrease the risk of breast cancer. Citation Format: Rawan Mustafa, Khawla Ammar, Rana Damsees, Maryam El-Atrash, Rayan Bater, Sama Almasri, Faris Tamimi, Lama Abujamous, Hikmat Abdel-Razeq. Family communication and attitude of patients with breast cancer toward positive pathogenic BRCA1 or BRCA2 mutations. A regional perspective [abstract]. In: Proceedings of the 2021 San Antonio Breast Cancer Symposium; 2021 Dec 7-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2022;82(4 Suppl):Abstract nr P2-09-17.