The largest population study ever done into the risk of cancer in families that fulfil the criteria for BRCA1 and BRCA2 mutation testing has confirmed that breast and ovarian cancers are the major concerns for geneticists and doctors counselling families. It has also verified that families eligible for BRCA1/2 mutation testing are at increased risk of pancreatic, prostate and stomach cancers.
One important conclusion of the study was that, in families with at least one woman with breast cancer and another woman with ovarian cancer, most ovarian cancers are not attributable to BRCA1/2 mutations. Other, as yet unknown, non-BRCA1/2 related factors are likely to increase the risk of ovarian cancer in those families.
The study, published today (Monday 15 November) in Annals of Oncology, utilised the 2002 update of the Swedish Family-Cancer Database, which contains everyone born in Sweden after 1931 with their biological parents – a total of 10.2 million people. Nearly 948,000 families with at least three generations were classified according to the clinical criteria proposed by the German Consortium for Hereditary Breast and Ovarian Cancer for testing of BRCA1/2 mutations.
Prof Hemminki and Dr Lorenzo Bermejo concluded: "The main message from our study for families which fulfil the criteria for mutation testing is that their risk for cancers other than breast and ovarian cancer is only moderate. The message for those involved in clinical counselling is that most ovarian cancers in families eligible for mutation testing are not related to BRCA1/2 mutations."
 Risk of cancer at sites other than the breast in Swedish families eligible for BRCA1 or BRCA2 mutation testing. Annals of Oncology. Doi:10.1093/annonc/mdh474.
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