Identification of germ-line E-cadherin mutations in gastric cancer families of European origin

E-cadherin germ-line mutations have recently been described as a molecular basis for early-onset familial gastric cancer in Maori kindred. We screened 18 gastric cancer families of European origin for germ-line mutations to determine the proportion in which E-cadherin mutations occur and the clinica...

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Bibliographic Details
Published in:Cancer research (Chicago, Ill.) Ill.), 1998-09, Vol.58 (18), p.4086-4089
Main Authors: GAYTHER, S. A, GORRINGE, K. L, MACLEOD, P, POWELL, S. M, JACKSON, C. E, PONDER, B. A. J, CALDAS, C, RAMUS, S. J, HUNTSMAN, D, ROVIELLO, F, GREHAN, N, MACHADO, J. C, PINTO, E, SERUCA, R, HALLING, K
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Aged
Aged, 80 and over
Biological and medical sciences
Cadherins - genetics
Europe - ethnology
Female
Gastroenterology. Liver. Pancreas. Abdomen
Germ-Line Mutation - genetics
Humans
Male
Medical sciences
Middle Aged
Pedigree
Stomach Neoplasms - ethnology
Stomach Neoplasms - genetics
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Tumors
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Summary:E-cadherin germ-line mutations have recently been described as a molecular basis for early-onset familial gastric cancer in Maori kindred. We screened 18 gastric cancer families of European origin for germ-line mutations to determine the proportion in which E-cadherin mutations occur and the clinical characteristics of the affected families. Truncating mutations were identified in three kindred with familial diffuse gastric cancer. In these families, the age of onset of gastric cancer was variable, the penetrance was incomplete, and one kindred contained individuals with cancers at other sites. Here, we show that a proportion of diffuse gastric cancer families of European origin have germ-line E-cadherin mutations; however, these mutations are absent in intestinal gastric cancer families.
ISSN:0008-5472
1538-7445