2012
DOI: 10.1093/annonc/mds396
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Germline Mutations in CDH1 and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome

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Cited by 26 publications
(36 citation statements)
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“…In fact, the initial approaches to assess the pathogenicity of the c.1679C>G variant (through in silico predictions, familial segregation, and population frequencies) suggested the involvement of the variant in HDGC. Furthermore, this variant had been reported twice before in the literature-in a young patient with DGC [5] and in a family of Indian origin also with DGC [6]-together with two unpublished cases reported to the Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP; personal communication from R Seruca, 2016). Benusiglio et al did not perform any type of functional analysis [5], while Yelskaya et al described that the c.1679C>G variant disrupts normal splicing, which presumably leads to truncation of the protein [6].…”
Section: Discussionmentioning
confidence: 87%
See 1 more Smart Citation
“…In fact, the initial approaches to assess the pathogenicity of the c.1679C>G variant (through in silico predictions, familial segregation, and population frequencies) suggested the involvement of the variant in HDGC. Furthermore, this variant had been reported twice before in the literature-in a young patient with DGC [5] and in a family of Indian origin also with DGC [6]-together with two unpublished cases reported to the Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP; personal communication from R Seruca, 2016). Benusiglio et al did not perform any type of functional analysis [5], while Yelskaya et al described that the c.1679C>G variant disrupts normal splicing, which presumably leads to truncation of the protein [6].…”
Section: Discussionmentioning
confidence: 87%
“…Furthermore, this variant had been reported twice before in the literature-in a young patient with DGC [5] and in a family of Indian origin also with DGC [6]-together with two unpublished cases reported to the Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP; personal communication from R Seruca, 2016). Benusiglio et al did not perform any type of functional analysis [5], while Yelskaya et al described that the c.1679C>G variant disrupts normal splicing, which presumably leads to truncation of the protein [6]. In support of these findings, we also observed that the c.1679C>G change generates an alternative 5′ splice site, leading to the loss of 32 nucleotides in exon 11 or to a premature stop codon at position 576 of the protein.…”
Section: Discussionmentioning
confidence: 87%
“…Germline CDH1 alterations are not restricted to specific sites of the CDH1 gene or specific E-cadherin protein domains, as they are distributed throughout the coding regions and include splice-site sequences and UTRs (5'-and 3'-untranslated regions) of the gene, as well as throughout all protein functional domains [67]. Penetrance in proven mutation carriers is incomplete, with an estimated lifetime risk for DGC of >80% in both men and women by age 80 and of 60% for lobular breast cancer in women by the age of 80 [67].…”
Section: Hereditary Gastric Cancermentioning
confidence: 99%
“…Hereditary diffuse gastric cancer (HDGC) is a cancer predisposition syndrome which accounts for up to 19-40% of familial gastric cancers and is associated with an autosomal-dominant inheritance pattern due to germline CDH1 variants [1][2][3]. While initially a syndrome used to describe familial inheritance of diffuse gastric cancer, it is now recognized that the syndrome includes increased risk for lobular breast cancer (LBC), possibly colorectal cancer, and non-cancerous but significant conditions like cleft lip palate syndrome [2][3][4][5][6][7][8]. Lifetime cumulative risk for gastric cancer in male CDH1 mutation carriers is 70% by age 80; similar risk for female CDH1 mutation carriers is 56% for diffuse gastric cancer and 42% for LBC [3].…”
Section: Introductionmentioning
confidence: 99%