American Association for Cancer Research

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Gene Identified in Increasing Pancreatic Cancer Risk


December 29, 2011

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  • Mutations in the ATM gene increase hereditary pancreatic cancer risk.
  • Information could help with risk counseling.
  • Screening methods are undergoing clinical trials.
PHILADELPHIA — Mutations in the ATM gene may increase the hereditary risk for pancreatic cancer, according to data published in Cancer Discovery, the newest journal of the American Association for Cancer Research.

Pancreatic cancer is one of the most morbid cancers, with less than 5 percent of those diagnosed with the disease surviving to five years. Approximately 10 percent of patients come from families with multiple cases of pancreatic cancer.

“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,” said lead author Alison Klein, Ph.D., associate professor of oncology at the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins and director of the National Familial Pancreas Tumor Registry.

Klein and colleagues used next-generation sequencing, including whole genome and whole exome analyses, and identified ATM gene mutations in two kindreds with familial pancreatic cancer.

When these initial findings were examined in a large series for patients, ATM mutations were present in four of 166 subjects with pancreatic cancer but were absent in 190 spousal control subsets.

Klein said that 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. However, there are currently no recommended screening tests.

Many doctors use endoscopy as a screening tool for pancreatic cancer, but researchers are still evaluating this technique in clinical trials.

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The mission of the American Association for Cancer Research is to prevent and cure cancer. Founded in 1907, the AACR is the world’s oldest and largest professional organization dedicated to advancing cancer research. The membership includes 33,000 laboratory, translational and clinical researchers; health care professionals; and cancer survivors and advocates in the United States and more than 90 other countries. The AACR marshals the full spectrum of expertise from the cancer community to accelerate progress in the prevention, diagnosis and treatment of cancer through high-quality scientific and educational programs. It funds innovative, meritorious research grants, research fellowships and career development awards to young investigators, and it also funds cutting-edge research projects conducted by senior researchers. The AACR has numerous fruitful collaborations with organizations and foundations in the U.S. and abroad, and functions as the Scientific Partner of Stand Up To Cancer, a charitable initiative that supports groundbreaking research aimed at getting new cancer treatments to patients in an accelerated time frame. The AACR Annual Meeting attracts more than 17,000 participants who share the latest discoveries and developments in the field. Special Conferences throughout the year present novel data across a wide variety of topics in cancer research, treatment and patient care, and Educational Workshops are held for the training of young cancer investigators. The AACR publishes seven major peer-reviewed journals: Cancer Discovery; Cancer Research; Clinical Cancer Research; Cancer Epidemiology, Biomarkers & Prevention; Molecular Cancer Therapeutics; Molecular Cancer Research; and Cancer Prevention Research. In 2010, AACR journals received 20 percent of the total number of citations given to oncology journals. The AACR also publishes Cancer Today, a magazine for cancer patients, survivors and their caregivers, which provides practical knowledge and new hope for cancer survivors. A major goal of the AACR is to educate the general public and policymakers about the value of cancer research in improving public health, the vital importance of increases in sustained funding for cancer research and biomedical science, and the need for national policies that foster innovation and the acceleration of progress against the 200 diseases we call cancer.

Media Contact:
Jeremy Moore
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Jeremy.Moore@aacr.org