ATM gene may increase risk for pancreatic ductal adenocarcinoma

Roberts NJ. Cancer Discovery. 2011;doi:10.1158/2159-8290.CD-11-0194.

Mutations in the ATM gene have been identified as a predisposition gene for pancreatic ductal adenocarcinoma, according to data published online in Cancer Discovery, a journal of the American Association for Cancer Research.

To identify additional familial pancreatic cancer genes, researchers recruited study participants enrolled into one of the familial pancreatic cancer registries participating in the Pancreatic Cancer Genetic Epidemiology (PACGENE) consortium. Researchers examined the whole-genome sequences of 16 participants from six families and the whole-exome sequences of an additional 22 participants from 10 families, each of which included at least three members with pancreatic ductal adenocarcinoma.

“There was significant reason to believe this clustering was due to genetics, but we had not, to this point, been able to find the causative genes that explained the cluster of pancreatic cancer for a majority of these families,” study researcher Allison Klein, PhD, associate professor of oncology at the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins and director of the National Familial Pancreas Tumor Registry, said in a press release.

Researchers sequenced the entire coding region of the ATM gene in an additional 166 familial pancreatic cancer patients — 71 of whom were from relatives with three or more pancreatic cancers — and 190 spouse controls to determine the predominance of the deleterious ATM gene among controls and familial pancreatic cancer patients.

During sequence analysis, researchers identified four additional patients (2.4%) with deleterious mutations in the ATM gene, yet none in the 190 spouse controls (P=.046). When researchers focused on only the most severely affected families with three or more pancreatic cancer cases, it was found that 4.6% carried deleterious ATM gene mutations (P=.009).

Disclosure: Researchers report licensing agreements and royalty shares with Myriad Genetics Inc., Inostics, PGDx and Qiagen.

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Mutations in the ATM gene have been identified as a predisposition gene for pancreatic ductal adenocarcinoma, according to data published online in Cancer Discovery, a journal of the American Association for Cancer Research.

To identify additional familial pancreatic cancer genes, researchers recruited study participants enrolled into one of the familial pancreatic cancer registries participating in the Pancreatic Cancer Genetic Epidemiology (PACGENE) consortium. Researchers examined the whole-genome sequences of 16 participants from six families and the whole-exome sequences of an additional 22 participants from 10 families, each of which included at least three members with pancreatic ductal adenocarcinoma.

“There was significant reason to believe this clustering was due to genetics, but we had not, to this point, been able to find the causative genes that explained the cluster of pancreatic cancer for a majority of these families,” study researcher Allison Klein, PhD, associate professor of oncology at the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins and director of the National Familial Pancreas Tumor Registry, said in a press release.

Researchers sequenced the entire coding region of the ATM gene in an additional 166 familial pancreatic cancer patients — 71 of whom were from relatives with three or more pancreatic cancers — and 190 spouse controls to determine the predominance of the deleterious ATM gene among controls and familial pancreatic cancer patients.

During sequence analysis, researchers identified four additional patients (2.4%) with deleterious mutations in the ATM gene, yet none in the 190 spouse controls (P=.046). When researchers focused on only the most severely affected families with three or more pancreatic cancer cases, it was found that 4.6% carried deleterious ATM gene mutations (P=.009).

Disclosure: Researchers report licensing agreements and royalty shares with Myriad Genetics Inc., Inostics, PGDx and Qiagen.

Twitter Follow HemOncToday.com on Twitter.