In 2009, we established a consortium of clinicians, epidemiologists and researchers to work on PALB2 (the PALB2 Interest Group, PALB2-IG), and we have annual meetings of the consortium. We now have ~150 members and to date have held seven meetings. In 2014 the PALB2 Interest Group published a seminal study on the risk of breast cancer associated with PALB2 mutations using data on 362 PALB2 mutation carriers in 154 families and estimated the cumulative risk of breast cancer among female mutation carriers to be 14% (95% confidence interval [CI], 9 to 20) by 50 years of age and 35% (95% CI, 26 to 46) by 70 years of age. We also found that breast-cancer risk was significantly influenced by birth cohort (P<0.001) and by other familial factors (P=0.04). The absolute breast-cancer risk for PALB2 female mutation carriers by 70 years of age ranged from 33% (95% CI, 25 to 44) for those with no family history of breast cancer to 58% (95% CI, 50 to 66) for those with two or more first-degree relatives with breast cancer at 50 years of age. Furthermore, there was some evidence that PALB2-associated breast cancer was more likely to be triple negative compared to sporadic breast cancer (albeit based on small numbers). This paper established mutations in PALB2 as an important cause of inherited breast cancer. Germline mutations in PALB2 have also been associated with an increased risk in pancreatic cancer but evidence for predisposition to other cancers is less clear.
PALB2 Interest Group Annual Meeting in Orlando, 18 October 2017
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Image credit: University of Cambridge