scholarly journals Genetic and histological subtypes of gastric cancer reviewed, particularly emphasising on microsatellite instability and E-cadherin gene mutation

2017 ◽  
Vol 67 (3) ◽  
pp. 193-200
Author(s):  
Katarzyna Karpińska ◽  
Magdalena Lewandowska ◽  
Elżbieta Urasińska
Keyword(s):  
Gastric Cancer ◽  
Microsatellite Instability ◽  
Gene Mutation ◽  
Histological Subtypes ◽  
E Cadherin

Searching for e-cadherin gene mutation in hereditary diffuse gastric cancer in Korea: A preliminary report.

2014 ◽  
Vol 32 (15_suppl) ◽  
pp. e15016-e15016
Author(s):  
Hwoon-Yong Jung ◽  
Eun Jeong Gong ◽  
Woochang Lee ◽  
Ji Yong Ahn ◽  
Kwi-Sook Choi ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Gene Mutation ◽  
Preliminary Report ◽  
Hereditary Diffuse Gastric Cancer ◽  
Diffuse Gastric Cancer ◽  
E Cadherin

Absence of Microsatellite Instability and Germline Mutations of E-Cadherin, APC and p53 Genes in Japanese Familial Gastric Cancer

Tumor Biology ◽  
2001 ◽  
Vol 22 (4) ◽  
pp. 262-268 ◽  
Author(s):  
Masanobu Kusano ◽  
Hideki Kakiuchi ◽  
Mami Mihara ◽  
Fumio Itoh ◽  
Yasushi Adachi ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Microsatellite Instability ◽  
Germline Mutations ◽  
Familial Gastric Cancer ◽  
P53 Genes ◽  
E Cadherin

scholarly journals Clinical spectrum and pleiotropic nature of CDH1 germline mutations

2019 ◽  
Vol 56 (4) ◽  
pp. 199-208 ◽  
Author(s):  
Joana Figueiredo ◽  
Soraia Melo ◽  
Patrícia Carneiro ◽  
Ana Margarida Moreira ◽  
Maria Sofia Fernandes ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gastric Cancer ◽  
Genetic Alterations ◽  
Tumour Suppressor Gene ◽  
Diffuse Gastric Cancer ◽  
Loss Of Function ◽  
Lobular Breast Cancer ◽  
Cancer Syndrome ◽  
Risk Of Cancer ◽  
E Cadherin

CDH1 encodes E-cadherin, a key protein in adherens junctions. Given that E-cadherin is involved in major cellular processes such as embryogenesis and maintenance of tissue architecture, it is no surprise that deleterious effects arise from its loss of function. E-cadherin is recognised as a tumour suppressor gene, and it is well established that CDH1 genetic alterations cause diffuse gastric cancer and lobular breast cancer—the foremost manifestations of the hereditary diffuse gastric cancer syndrome. However, in the last decade, evidence has emerged demonstrating that CDH1 mutations can be associated with lobular breast cancer and/or several congenital abnormalities, without any personal or family history of diffuse gastric cancer. To date, no genotype–phenotype correlations have been observed. Remarkably, there are reports of mutations affecting the same nucleotide but inducing distinct clinical outcomes. In this review, we bring together a comprehensive analysis of CDH1-associated disorders and germline alterations found in each trait, providing important insights into the biological mechanisms underlying E-cadherin’s pleiotropic effects. Ultimately, this knowledge will impact genetic counselling and will be relevant to the assessment of risk of cancer development or congenital malformations in CDH1 mutation carriers.

scholarly journals Microsatellite instability in Gastric Cancer: Between lights and shadows

2021 ◽  
Vol 95 ◽  
pp. 102175
Author(s):  
Elisabetta Puliga ◽  
Simona Corso ◽  
Filippo Pietrantonio ◽  
Silvia Giordano
Keyword(s):  
Gastric Cancer ◽  
Microsatellite Instability

Activin a Receptor Type 2A Mutation Affects the Tumor Biology of Microsatellite Instability-High Gastric Cancer

2021 ◽  
Author(s):  
Kizuki Yuza ◽  
Masayuki Nagahashi ◽  
Hiroshi Ichikawa ◽  
Takaaki Hanyu ◽  
Masato Nakajima ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Microsatellite Instability ◽  
Tumor Biology ◽  
Activin A ◽  
Receptor Type

Microsatellite frameshift variants in SGO1 of gastric cancer are not always associated with MSI status

2020 ◽  
pp. jclinpath-2020-206934
Author(s):  
Tomohiro Sugiyama ◽  
Moriya Iwaizumi ◽  
Terumi Taniguchi ◽  
Satoshi Suzuki ◽  
Shinya Tani ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Microsatellite Instability ◽  
Mismatch Repair ◽  
Gastrointestinal Cancer ◽  
Early Stage ◽  
Stage Iv ◽  
Cancer Resection ◽  
Deficient Mismatch Repair ◽  
Gastric Cancer Resection ◽  
Genemapper Software

AimsAlthough frameshift variants in the microsatellite area of shugoshin 1 (SGO1) have been reported in the context of microsatellite instability-high (MSI-H)/deficient mismatch repair gastrointestinal cancer, most have been evaluated only in early stage I–III patients, and only two of its five microsatellite regions have been evaluated. Therefore, we investigated the frequency and MSI status of microsatellite frameshift variants in gastric cancer cases, including stage IV.MethodsIn a total of 55 cases, 30 gastric cancer resection and 25 non-resection cases, DNA was extracted from both tumour and normal parts and PCR was performed. The variant was confirmed by TA cloning, and MSI was evaluated using GeneMapper software.ResultsA frameshift variant of c.973delA was observed in 16 of the 45 evaluable cases. Its frequency was 35.6%. Of the 25 cases that could be assessed for MSI status, two cases of MSI-H were associated with the c.973delA SGO1 variant. However, c.973delA SGO1 variant was also observed in four cases of microsatellite stable.ConclusionOur study shows that SGO1 frameshift variants are not always associated with MSI status.

scholarly journals Infrequent loss of heterozygosity of APC/MCC and DCC genes in gastric cancer showing DNA microsatellite instability

1999 ◽  
Vol 52 (7) ◽  
pp. 504-508 ◽  
Author(s):  
D. C. Fang ◽  
J. R. Jass ◽  
D. X. Wang ◽  
X. D. Zhou ◽  
Y. H. Luo ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Microsatellite Instability ◽  
Loss Of Heterozygosity ◽  
Dna Microsatellite
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