Among individuals with a CDH1 gene variant, the risk of gastric cancer was lower than previously described, while risk of breast cancer among female carriers was similar to previous estimates.在具有CDH1基因变体的个体中,患癌症的风险低于先前的描述,而女性携...
Hereditary Diffuse Gastric Cancer (HDGC) This is an autosomal dominant syndrome characterized by the development of diffuse (signet ring cell) gastric cancers at a young age.Truncating mutations in CDH1, the gene encoding the cell adhesion molecular E-cadherin, are found in 30% to 50% of cases...
bladder cancer. Human ortholog(s) of this gene implicated in several diseases, including blepharocheilodontic syndrome 1; breast cancer (multiple); cervix uteri carcinoma in situ; gastrointestinal system cancer (multiple); and reproductive organ cancer (multiple). Orthologous to human CDH1 (cadherin...
乳腺癌易感基因1(breast cancer susceptibility gene l,BRCA1)是已明确的乳腺癌易感基因[6-7]。 本研究中经过对部分乳腺癌患者及其直系家庭成员进行血液样品的采集与检测,筛选出已知乳腺癌致病基因突变7种、意义不明突变6种以及疑似致病...
a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. Th...
Gene SummaryThis gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated ...
【Key words】 Familial cancer syndrome;CDH1 gene;Germline mutation, Gastric cancer/Breast cancer 临床研究发现, 部分肿瘤发病有家族史, 即同一家系中肿瘤发病率很高 ,且发病年龄较轻。肿瘤的发生部位可以不局限于同一组织或器官 。此种家族发病有呈常染色体显性遗传特点, 以往称之为“癌家族” ,最近文献将其称...
Gene SummaryThis gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated ...
Xie ZM, Li LS, Laquet C et al (2011) Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer. Cancer 117:3112–3117. doi:10.1002/cncr.25876 Article CAS PubMed Google Scholar Lei H, Sjöberg-Margolin S, Salah...
【1】The largest study involving multigene panel testing of women with invasive lobular carcinoma describes the frequency of germline pathogenic variants (PVs) in invasive lobular carcinoma and the differences in gene-spec...