Gene linked to pancreatic cancer.

A new study found that the ataxia tel-angiectasia mutated (ATM) gene — a gene linked with breast cancer and suspected in many others — may increase the hereditary risk for pancreatic cancer. According to the study, published in the January 2012 Cancer Discovery , knowledge of the presence of the ATM gene could lead to better screening for pancreatic cancer, the fourth-most-common cause of cancer-related death. Pancreatic cancer is one of the most lethal cancers, with less than 5% of those diagnosed with the disease surviving 5 years. associate professor of oncology at the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins in Baltimore, said that approximately 10% of these cases occur in families with multiple cases of pancreatic cancer. Although the hereditary basis for predisposition in almost all affected families is unknown, she said, substantial reason existed to believe that genetics was responsible for this clustering. " However, until now, researchers had not been able to fi nd the causative genes that explained the cluster of pancreatic cancer " for most of these families, she said. Klein added that the research team identified ATM as a predisposition gene for pancreatic ductal adenocarcinoma. In the study, ge-nomic DNA from familial pancreatic cancer cases was extracted from peripheral blood lympho-cytes or Epstein – Barr virus – transformed peripheral blood lymphocytes. The researchers used next-generation sequencing, including whole-genome and whole-exome analyses, and identifi ed heterozy-gous, constitutional ATM gene mutations in two relatives with familial pancreatic cancer. Mutations segregated with disease in both kindreds, and tumor analysis demonstrated loss of heterozygosity of the wild-type allele. Klein said that by using sequence analysis of an additional 166 familial pancreatic cancer probands, she and the other researchers identifi ed four additional patients with deleterious mutations in the ATM gene, whereas they did not identify deleterious mutations in 190 spouse control patients. When they considered " Our results indicate that inherited ATM mutations play an important role in familial pancreatic cancer predisposition. "