The rate of the 6174delT founder Jewish mutation in BRCA2 in patients with non-colonic gastrointestinal tract tumours in Israel
2001

BRCA2 Mutation in Jewish Patients with GI Cancers

Sample size: 70 publication Evidence: high

Author Information

Author(s): Figer A, Irmin L, Geva R, Flex D, Sulkes J, Sulkes A, Friedman E

Primary Institution: Institute of Oncology, Epidemiology Unit, Rabin Medical Center

Hypothesis

Does the 6174delT mutation in BRCA2 contribute to non-colonic gastrointestinal cancers in Jewish Israeli patients?

Conclusion

The BRCA2 mutation rate in patients with gastric and pancreatic cancer is significantly higher than in the general Ashkenazi population.

Supporting Evidence

  • 6 mutation carriers were detected among the patients tested.
  • 13% of pancreatic cancer patients carried the mutation.
  • 5.7% of gastric cancer patients carried the mutation.
  • 25% of bile duct cancer patients carried the mutation.
  • The mutation carrier rate among patients is significantly higher than the general Ashkenazi population.

Takeaway

Some Jewish people have a specific gene change that makes them more likely to get certain stomach and pancreas cancers.

Methodology

PCR amplification and modified restriction enzyme digests were used to test for the mutation.

Participant Demographics

Jewish Ashkenazi patients aged 38–90 years, mean age 65.8 years.

Statistical Information

P-Value

0.0002

Statistical Significance

p=0.0002

Digital Object Identifier (DOI)

10.1054/bjoc.2000.1605

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