Attitudes and distress levels in women at risk to carry a BRCA1/BRCA2 gene mutation who decline genetic testing.

Genetic testing enables women at risk for hereditary breast and/or ovarian cancer to find out whether they have inherited the gene mutation, and if so, to opt for undergoing frequent surveillance and/or prophylactic surgery. However, the option to know about one's genetic status is not always seen as a benefit by women at risk. Motives for declining genetic testing were explored in 13 women at 25% or 50% risk to be a BRCA1/BRCA2 mutation carrier, who participated in a surveillance program for breast/ovarian cancer (the non-tested group).

One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylactic surgery).

Genetic testing enables women at risk for hereditary breast and/or ovarian cancer to find out whether they have inherited the gene mutation (BRCA1/BRCA2), and if so, to opt for frequent surveillance and/or prophylactic surgery (bilateral mastectomy and/or oophorectomy). Here, a follow-up is described for 63 healthy women at 50% risk of being a BRCA1/BRCA2 mutation carrier who underwent genetic testing. The course of distress and problems regarding body image and sexuality up to 1 year after disclosure of the test-outcome were described separately for mutation carriers undergoing mastectomy (n = 14), for mutation carriers opting for surveillance (n = 12) and for non-mutation carriers (n = 37).