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This prospective multicentre study assesses long-term impact of genetic testing for breast/ovarian cancer predisposition in a clinical cohort. Areas evaluated include risk management, distress and insurance problems 3 years post-testing. Participants are adults unaffected with cancer from families with a known BRCA1/2 mutation. One hundred and ninety-three out of 285 (70% response) participants at nine UK clinical genetics centres completed assessments at 3 years: 80% female; 37% carriers of a BRCA1/2 mutation. In the 3 years, post-genetic testing carriers reported more risk management activities than non-carriers. Fifty-five per cent of female carriers opted for risk reducing surgery; 43% oophorectomy; and 34% mastectomy. Eighty-nine per cent had mammograms compared with 47% non-carriers. Thirty-six per cent non-carriers > or =50 years did not have a mammogram post-test. Twenty-two per cent male carriers had colorectal and 44% prostate screening compared with 5 and 19% non-carriers respectively. Seven per cent carriers and 1% non-carriers developed cancer. Distress levels did not differ in carriers and non-carriers at 3-year follow-up. Forty per cent of female carriers reported difficulties with life and/or health insurance. Given the return to pre-test levels of concern among female non-carriers at 3 years and a substantial minority not engaging in recommended screening, there appears to be a need to help some women understand the meaning of their genetic status.

Original publication




Journal article


Br j cancer

Publication Date





718 - 724


Adult, Breast Neoplasms, Female, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Genetic Testing, Heterozygote, Humans, Insurance Selection Bias, Male, Mammography, Ovarian Neoplasms, Ovariectomy, Patient Compliance, Prostatic Neoplasms, Risk Management, United Kingdom