Tuesday, November 07, 2006

Increased risk of breast cancer without BRCA1/2 mutations

Inherited mutations in the BRCA1 and BRCA2 genes are associated with strong predisposition to breast and ovarian cancer; lifetime risk is around 85% for mutation carriers. Women at high risk of the disease based on their family history require high levels of surveillance to identify tumours in the early stages; the identification of a familial breast cancer associated mutation makes it possible to test unaffected relatives. Those who test positive for the mutation receive the option of increased levels of surveillance or prophylactic interventions, whilst those who test negative are discharged from surveillance. However, a new study in the Journal of Medical Genetics suggests that the risk of disease for family members who lack the familial BRCA1/2 mutation may nevertheless remain elevated. The UK researchers examined a total of 277 families with pathogenic BRCA1/2 mutations; 49% of the women (258 in all) tested negative for the family mutation, but 28 of these developed breast cancer and a further four, ovarian cancer. Overall, 6.4% of the family members who did not possess the familial mutation developed breast cancer by the age of 50, compared with just 2% of the general population, leading the researchers to conclude that the relative risk of breast cancer for these family members was raised [Smith, A et al. (2006) J Med Genet Online First, doi:10.1136/jmg.2006.043091]. --Click the title of this post to read the full article from its source--


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