The finding of BRCA1 and BRCA2 in the same individual presents unique counselling difficulties
Two separate families were referred for cancer genetic risk assessment. The proband in the first family was a 36 year old female who had breast cancer. The proband in the second family was a 70 year old man with bowel cancer and a family history of breast cancer. During the course of pedigree documentation it was realised that the two families were related but each family had little knowledge of the other. The female proband was tested for the common breast cancer mutations and was found to harbour a mutation in both BRCA1 and BRCA2. This finding created a number of issues for the proband, her family, and the genetic counselling service. Firstly, the main issues for the family were the meaning of this finding in terms of increased risk, clinical management, communication within the family, individual privacy and personal psychological consequences. Secondly, for the genetic counselling service, the challenges of offering predictive testing to both families included, - a) identifying the origins of each mutation, b) deciding which mutations to test for in each individual, c) cancer risk counselling given the limited information available in the literature on this subject, d) identifying and communicating increased risk information to the ever-enlarging pedigree, and, e) maintaining privacy and confidentiality within the family while dealing with each individual’s emotional, social and medical needs.