( l families carrying the novel 2398delC ...)Researchers Identify Genetic Mutations for Hereditary Diffuse Gastric Cancer,Health

l families carrying the novel 2398delC mutation shared a common haplotype (a group of alleles of different genes on a single chromosome that are closely enough linked to be inherited usually as a unit), suggesting a founder effect (a population group with an unusual frequency of a gene due to there having been only a small number of original members, one or more of whom had that gene). All four families originate from the southeast coast of Newfoundland.

Due to concentrations of lobular breast cancer cases, two branches of this family had been diagnosed as having hereditary breast cancer and were tested for BRCA mutations. Within these four families, the cumulative risk by age 75 years in mutation carriers for clinically detected gastric cancer was 40 percent for males and 63 percent for females and the risk for breast cancer in female mutation carriers was 52 percent.

"Our results confirm that between 30 percent and 40 percent of families with a positive family history of gastric cancer and more than 50 percent of families with 2 diffuse gastric cancer cases diagnosed prior to age 50 years will carry germline mutations in the CDH1 gene," the researchers write.

"This extended family with the 2398delC founder mutation is a useful resource for determining risk-modifying factors in the development of diffuse gastric cancer or lobular breast cancer, such as diet or genetic polymorphisms, and for studying secondary genetic events that lead to cancer formation. The identification of this mutation could permit population-based screening of diffuse gastric cancer within specific regions of Newfoundland.

Testing for the founder mutation will be particularly valuable for potential HDGC families from Newfoundland in which there is no known living relative with either diffuse gastric cancer or lobular breast cancer from whom a high-quality peripheral blood DNA sample can be obtained for full CDH1 genetic screening because
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