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 molec ular basis for early-onset familial gastric cancer in Maori kindred. W e screened 18 gastric cancer families of European origin for germ-line mutations to determine the proportion in which E-cadherin mutations o ccur and the clinical characteristics of the affected families. Trunca ting 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 proport ion of diffuse gastric cancer families of European origin have germ-li ne E-cadherin mutations; however, these mutations are absent in intest inal gastric cancer families.