BRCA2 gene mutations in families with aggregations of breast and stomach cancers.
Bottom Line: It is estimated that 25% of families meeting the criteria for hereditary diffuse gastric carcinoma (HDCG) will have germline mutations in the E-cadherin gene.In all but one of these families at least one additional relative was also affected by a malignant tumour.We identified three frameshift mutations and three sequence variants - potentially missense mutations, in six unrelated patients representing 20.7% (six out of 29) of the families investigated.
Affiliation: Department of Genetics and Pathology, Pomeranian Academy of Medicine, Sczcecin, Poland. email@example.comShow MeSH
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Mentions: In three families the association of detected abnormalities in the BRCA2 gene with stomach cancer was supported by analyses of the occurrence of these changes in relatives. In families No 3 and 23 mutations were detected in probands with breast cancer but not in the maternal side of family where stomach cancer was not observed (Figure 1A,BFigure 1
Affiliation: Department of Genetics and Pathology, Pomeranian Academy of Medicine, Sczcecin, Poland. firstname.lastname@example.org