Schrader Kasmintan A, Masciari Serena, Boyd Niki, Wiyrick Sara, Kaurah Pardeep, Senz Janine, Burke Wylie, Lynch Henry T, Garber Judy E, Huntsman David G
Department of Pathology and Laboratory Medicine, University of British Columbia, British Columbia Cancer Agency, Vancouver, BC, Canada.
Fam Cancer. 2008;7(1):73-82. doi: 10.1007/s10689-007-9172-6.
Hereditary diffuse gastric cancer (HDGC) has been shown to be caused by germline mutations in the gene CDH1 located at 16q22.1, which encodes the cell-cell adhesion molecule, E-cadherin. Not only does loss of expression of E-cadherin account for the morphologic differences between intestinal and diffuse gastric cancer (DGC) variants, but it also appears to lead to distinct cellular features which appear to be common amongst related cancers that have been seen in the syndrome. As in most hereditary cancer syndromes, multiple organ sites may be commonly affected by cancer, in HDGC, lobular carcinoma of the breast (LBC) and possibly other organ sites have been shown to be associated with the familial cancer syndrome. Given the complexity of HDGC, not only with regard to the management of the DGC risk, but also with regard to the risk for other related cancers, such as LBC, a multi-disciplinary approach is needed for the management of individuals with known CDH1 mutations.
遗传性弥漫性胃癌（HDGC）已被证明是由位于16q22.1的CDH1基因种系突变引起的，该基因编码细胞间粘附分子E-钙粘蛋白。E-钙粘蛋白表达缺失不仅导致肠型和弥漫性胃癌（DGC）变体在形态学上的差异，还似乎导致明显的细胞特征，这些特征在该综合征相关癌症中似乎很常见。与大多数遗传性癌症综合征一样，多个器官部位可能普遍受到癌症影响，在HDGC中，乳腺小叶癌（LBC）以及可能的其他器官部位已被证明与该家族性癌症综合征有关。鉴于HDGC的复杂性，不仅在DGC风险管理方面，而且在其他相关癌症（如LBC）的风险方面，对于已知CDH1突变的个体的管理需要多学科方法。
