Abstract
Gastric cancers are the second most common malignancy in the world and represent a major burden to all societies even though the incidence of disease is decreasing in the industrialized world. The aetiology of the disease is complex and is believed to be primarily due to environmental factors but a small proportion of cases are recognised as being associated with genetic factors. Two inherited forms of stomach cancer have been identified, one which is associated with familial clusterings of stomach cancer and the other being a subgroup of families that belong to hereditary non polyposis colorectal cancer (or Lynch syndrome). In this report we present a small nuclear family which is unusual in that there is a clustering of malignancy which includes stomach cancer, colorectal cancer and chordoma. Genetic analysis failed to reveal any causative mutation in genes associated with HNPCC or in E-cadherin. Together, the clinical picture in this family may indicate that other genetic factors are behind this family's clustering of malignancy.
Highlights
Gastric cancers represent the second most common malignancy worldwide the incidence of disease appears to be diminishing in the industrialized world
Patients harbouring mutations in the E-cadherin gene tend to present with diffuse disease whereas no genetic factors have been implicated in familial aggregations of intestinal gastric cancer
In this report we have identified a small family that is characterized by stomach cancer and the presence of chordoma in one of three siblings all of whom have succumbed to malignancy
Summary
Gastric cancers represent the second most common malignancy worldwide the incidence of disease appears to be diminishing in the industrialized world. Patients harbouring mutations in the E-cadherin gene tend to present with diffuse disease whereas no genetic factors have been implicated in familial aggregations of intestinal gastric cancer. An alternative genetic cause of stomach cancer in association with a variety of other epithelial cancers is hereditary non polyposis colorectal cancer (HNPCC). This entity is characterized by early onset colorectal cancer and a variety of other epithelial malignancies including endometrial cancer and stomach cancer. Four genes have been isolated and associated with HNPCC, hMLH1, hMSH2, hMSH6 and hPMS2 Both hMSH2 and hMSH6 reside on chromosome 2, Hereditary Cancer in Clinical Practice 2005; 3(2)
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