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BRCA2 gene now connected to lung cancer, doubling a smoker's risk
Date:6/2/2014

New research confirms a vulnerability to lung cancer can be inherited and implicates the BRCA2 gene as harboring one of the involved genetic mutations. An international consortium of scientists including investigators at the Institute for Cancer Research in London, the International Agency for Research on Cancer in Lyon, the National Cancer Institute in Bethesda, Harvard, and Dartmouth used integrated results from the 1000 Genomes Project with genetics studies of lung cancer to complete the investigation published on June 1, 2014 in Nature Genetics.

The study scanned the genomes of more than 11 thousand individuals of European descent to look for common variations associated with non-small cell carcinoma, a common form of lung cancer. The analysis showed that variations in the BRCA2 and CHEK2 genes can significantly increase an individual's risk for lung cancer. A smoker's chances of developing lung cancer may be doubled if he or she carries the BRCA2 variation. In addition, the TP63 gene, which previously was only associated with lung cancer risk in Asian populations, was associated with risk for adenocarcinoma, a form of non-small cell carcinoma, in those of European descent.

The study used four genome-wide association (GWA) studies from the U.T. M.D. Anderson Cancer Center, the Institute of Cancer Research, the National Cancer Institute, and the International Agency for Research on Cancer. Scientists used imputation, a statistical form of inference, in which data from a reference set of individuals who have been sequenced is used to fill in missing values on the genome for the study participants. The study validated the use of this approach in finding common genetic variations between multiple sets of data and by extensively genotyping additional participants from Harvard, the International Agency for Research in Cancer, the University of Toronto, the Institute of Cancer Research, and the German Cancer Research Institute.

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Contact: Robin Dutcher
Robin.dutcher@hitchcock.org
603-653-9056
The Geisel School of Medicine at Dartmouth
Source:Eurekalert

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