Familial gastric cancer: update for practice management

Corso, Giovanni; Marrelli, Daniele; Roviello, Franco

doi:10.1007/s10689-010-9410-1

Cited by 17 publications

(17 citation statements)

References 47 publications

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“…The vast majority of gastric cancers are sporadic, although a small number, 3–5 % of them, is caused by an autosomal dominant inherited trait. The majority of families with autosomal dominant gastric carcinoma have the diffuse, poorly differentiated morphologic subtype ( linitis plastica ) which is referred to as hereditary diffuse gastric cancer (HDGC) [8, 9]. There is also emerging evidence for an increased risk of lobular breast cancer and colon cancer in HDGC families [8, 9].…”

Section: Introductionmentioning

confidence: 99%

“…The majority of families with autosomal dominant gastric carcinoma have the diffuse, poorly differentiated morphologic subtype ( linitis plastica ) which is referred to as hereditary diffuse gastric cancer (HDGC) [8, 9]. There is also emerging evidence for an increased risk of lobular breast cancer and colon cancer in HDGC families [8, 9]. Approximately 25–48 % of the individuals with HDGC have an autosomal dominant inherited germline CDH1 mutation or large deletion affecting the CDH1 locus.…”

Section: Introductionmentioning

confidence: 99%

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Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate

et al. 2014

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The CDH1 gene plays an important role during carcinogenesis and craniofacial morphogenesis. Germline mutations in this gene have been described in families presenting syndromic diffuse gastric cancer and orofacial clefts. The aim of this study was to evaluate the association between nucleotide variants of CDH1 and the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P). Six single nucleotide polymorphisms (SNPs) of the CDH1 gene (rs16260, rs9929218, rs7186053, rs4783573, rs16958383, and rs1801552) were genotyped using the TaqMan SNP genotyping assays in 250 patients with NSCL/P and 540 controls from the Polish population. Comparison between patient and control groups showed that the CDH1 rs1801552 variant, under the assumption of recessive model, was associated with a two-fold decrease in the risk of NSCL/P (ORTT vs CT + CC = 0.481, 95 % CI 0.281–0.824, p = 0.007). This association remained statistically significant even after the multiple testing correction. No significant associations with NSCL/P risk were found for the other five tested SNPs. We found a strong association between the cancer predisposing gene CDH1 and the risk of NSCL/P in the Polish population. This result, together with previous observations of co-occurrence of orofacial clefts and a variety of cancer types, suggests the need for replication studies testing rs1801552 in NSCL/P cohorts with a known cancer history.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate

et al. 2014

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“…There is also a high incidence of gastric cancer in HPNCC patients, suggesting a correlation between HPNCC and the development of gastric cancer (6,15). HNPCC is associated with heritable defects in DNA MMR.…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms of mismatch repair gene hMLH1 and hMSH2 and risk of gastric cancer in a Chinese population

et al. 2011

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Abstract. The purpose of this study was to determine the genotype and allele frequencies of hMLH1 (-93G>A and I219V) and hMSH2 (-118T>C and IVS12-6T>C) polymorphisms in patients with gastric carcinoma and normal controls, and to evaluate the association between these polymorphisms and the risk of gastric cancer in a hospital-based Chinese population. Genomic DNA was extracted from peripheral blood lymphocytes. A TaqMan assay was used to determine the genotype and allele frequencies of hMLH1 and hMSH2 polymorphisms in data obtained from 554 gastric cancer cases and 592 controls. Unconditional logistic regression was used to assess the association between the four single nucleotide polymorphisms (SNPs) and gastric carcinoma risk. No evidence of an association among any of the four polymorphisms and the risk of gastric cancer was observed. However, when gastric cancer patients were further stratified by age, gender, smoking status, alcohol use and clinicopathological characteristics, and compared with the control populations, the combined variant genotype hMSH2 -118T>C (TC+CC) was not only associated with an increased risk of gastric cancer in subgroups of younger subjects [ages ≤63years; adjusted odds ratio (OR)=1.51, 95% confidence interval (CI), 1.05-2.16], but also with diffuse tumors (adjusted OR=1.41, 95% CI, 1.01-1.96). These data indicate that the polymorphisms of -93G>A, I219V and IVS12-6T>C are not associated with the risk of gastric cancer. However, hMSH2-118T>C combined with variant genotypes (TC+CC) may confer a potential risk of gastric cancer in the Chinese population.

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“…Peutz-Jeghers syndrome and the familial adenomatous polyposis (FAP). Hereditary diffuse gastric cancer develops from germline mutations in the CDH-1 gene (about one third of cases) coding for E-cadherin, an important cell adhesion molecule on the lateral surface of the cellular membrane, whereas in two thirds of the cases the underlying mutation cannot be identified [9,10]. The inactivation of the CDH-1 gene may be triggered by epigenetic mechanisms (hypermethylation of the promoter region) as well as by a genetic mechanism (loss of heterocygosity plus CDH-1 mutation).…”

Section: Hereditary Gastric Cancermentioning

confidence: 99%