BRCA1/2 Mutation Carriers

Abstract

This article addresses the psychological distress, internal and external coping resources, and coping strategies of carriers of the BRCA1/2 mutations based on a retrospective study conducted in the Oncogenetic Clinic at Rambam Medical Center in northern Israel. All women referred to the clinic between 1999 and December 2000 were genotyped for the three predominant Ashkenazi mutations in BRCA1/2 genes, then counseled and asked to participate in the study. Of the 390 eligible women, 276 (70%) agreed to participate. To examine the independent effect of mutation carrier status (yes/no) as well as its interaction effect with breast cancer status (yes/no), the 276 participants were divided into four groups according to their BRCA1/2 mutation carrier status: 42 (15%) were carriers with breast cancer, 96 (34%) were noncarriers with breast cancer, 36 (13%) were carriers without breast cancer, and 102 (38%) were noncarriers without breast cancer. The psychological assessment included the Brief Symptom Inventory, Sense of Coherence, Multidimensional Scale of Perceived Social Support, and the Multidimensional Coping Inventory. Data analyses indicated that the mutation carriers without breast cancer reported the highest levels of distress (F= 8.9; p< .01) and the lowest levels of internal and external coping resources (F= 4.7, p< .05, and F= 4.9, p< .01, respectively), findings that call for further research and clinical attention to be focused on this group of women.

Key Words:

• BRCA1/2 mutation carries
• psychological distress
• coping