van der Post RS, Vogelaar IP, Carneiro F et al (2015) Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet 52:361–374
Article
CAS
PubMed
PubMed Central
Google Scholar
Bosman FT, Carneiro F, Hruban RH et al (2012) WHO classification of tumours of the digestive system, 4th edition. IARC Scientific Publications, Lyon
Google Scholar
Lauren P (1965) The two histological main types of gastric carcinoma: diffuse and so-called intestinal-type carcinoma. an attempt at a histo-clinical classification. Acta Pathol Microbiol Scand 64:31–49
Article
CAS
Google Scholar
Oliveira C, Pinheiro H, Figueiredo J et al (2015) Familial gastric cancer: genetic susceptibility, pathology, and implications for management. Lancet Oncol 16:e60–e70
Article
Google Scholar
Guilford P, Hopkins J, Harraway J et al (1998) E-cadherin germline mutations in familial gastric cancer. Nature 392:402–405
Article
CAS
Google Scholar
Hansford S, Kaurah P, Li-Chang H et al (2015) Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond. JAMA Oncol 1:23–32
Article
Google Scholar
Caldas C, Carneiro F, Lynch HT et al (1999) Familial gastric cancer: overview and guidelines for management. J Med Genet 36:873–880
CAS
PubMed
PubMed Central
Google Scholar
Worthley DL, Phillips KD, Wayte N et al (2012) Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome. Gut 61:774–779
Article
CAS
PubMed
Google Scholar
Li J, Woods SL, Healey S et al (2016) Point mutations in exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a familial adenomatous polyposis variant. Am J Hum Genet 98:830–842
Article
CAS
PubMed
PubMed Central
Google Scholar
van der Post RS, Gullo I, Oliveira C et al (2016) Histopathological, molecular, and genetic profile of hereditary diffuse gastric cancer: current knowledge and challenges for the future. Adv Exp Med Biol 908:371–391
Article
Google Scholar
Rocha JP, Gullo I, Wen X et al (2018) Pathological features of total gastrectomy specimens from asymptomatic hereditary diffuse gastric cancer patients and implications for clinical management. Histopathology 73:878–886
Article
Google Scholar
van der Post RS, van Dieren J, Grelack A et al (2018) Outcomes of screening gastroscopy in first-degree relatives of patients fulfilling hereditary diffuse gastric cancer criteria. Gastrointest Endosc 87:397–404.e2
Article
PubMed
Google Scholar
Mi EZ, Mi EZ, di Pietro M et al (2018) A comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. Gastrointest Endosc 87:408–418
Article
PubMed
PubMed Central
Google Scholar
van der Post RS, Vogelaar IP, Manders P et al (2015) Accuracy of hereditary diffuse gastric cancer testing criteria and outcomes in patients with a germline mutation in CDH1. Gastroenterology 149:897–906.e19
Article
CAS
Google Scholar
Benusiglio PR, Malka D, Rouleau E et al (2013) CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. J Med Genet 50:486–489
Article
CAS
PubMed
Google Scholar
Oliveira C, Senz J, Kaurah P et al (2009) Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum Mol Genet 18:1545–1555
Article
CAS
PubMed
PubMed Central
Google Scholar
Hakkaart C, Ellison-Loschmann L, Day R et al (2019) Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Maori. Fam Cancer 18:83–90
Article
PubMed
Google Scholar
Yamada M, Fukagawa T, Nakajima T et al (2014) Hereditary diffuse gastric cancer in a Japanese family with a large deletion involving CDH1. Gastric Cancer 17:750–756
Article
Google Scholar
Sugimoto S, Yamada H, Takahashi M et al (2014) Early-onset diffuse gastric cancer associated with a de novo large genomic deletion of CDH1 gene. Gastric Cancer 17:745–749
Article
Google Scholar
Melo S, Figueiredo J, Fernandes MS et al (2017) Predicting the functional impact of CDH1 missense mutations in hereditary diffuse gastric cancer. Int J Mol Sci 18:E2687
Article
CAS
PubMed
Google Scholar
Lee K, Krempely K, Roberts ME et al (2018) Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Hum Mutat 39:1553–1568
Article
PubMed
Google Scholar
Pinheiro H, Bordeira-Carrico R, Seixas S et al (2010) Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer. Hum Mol Genet 19:943–952
Article
CAS
PubMed
Google Scholar
Grady WM, Willis J, Guilford PJ et al (2000) Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer. Nat Genet 26:16–17
Article
CAS
PubMed
Google Scholar
Oliveira C, Sousa S, Pinheiro H et al (2009) Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression. Gastroenterology 136:2137–2148
Article
CAS
PubMed
Google Scholar
Sahasrabudhe R, Lott P, Bohorquez M et al (2017) Germline mutations in PALB2, BRCA1, and RAD51C, which regulate DNA recombination repair, in patients with gastric cancer. Gastroenterology 152:983–986
Article
CAS
Google Scholar
Vogelaar IP, van der Post RS, van Krieken JHJ et al (2017) Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. Eur J Hum Genet 25:1246–1252
Article
CAS
PubMed
PubMed Central
Google Scholar
Slavin T, Neuhausen SL, Rybak C et al (2017) Genetic gastric cancer susceptibility in the international clinical cancer genomics community research network. Cancer Genet 216–217:111–119
Article
CAS
PubMed
PubMed Central
Google Scholar
Majewski IJ, Kluijt I, Cats A et al (2013) An alpha-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer. J Pathol 229:621–629
Article
CAS
Google Scholar
Weren RDA, van der Post RS, Vogelaar IP et al (2018) Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility. J Med Genet 55:669–674
Article
CAS
Google Scholar
Koslov ER, Maupin P, Pradhan D et al (1997) Alpha-catenin can form asymmetric homodimeric complexes and/or heterodimeric complexes with beta-catenin. J Biol Chem 272:27301–27306
Article
CAS
PubMed
Google Scholar
Fewings E, Larionov A, Redman J et al (2018) Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study. Lancet Gastroenterol Hepatol 3:489–498
Article
PubMed
PubMed Central
Google Scholar
Yap AS, Gomez GA, Parton RG (2015) Adherens junctions revisualized: organizing cadherins as nanoassemblies. Dev Cell 35:12–20
Article
CAS
Google Scholar
Papadopulos A (2017) Membrane shaping by actin and myosin during regulated exocytosis. Mol Cell Neurosci 84:93–99
Article
CAS
Google Scholar
Diz-Munoz A, Fletcher DA, Weiner OD (2013) Use the force: membrane tension as an organizer of cell shape and motility. Trends Cell Biol 23:47–53
Article
CAS
Google Scholar
Head BP, Patel HH, Insel PA (2014) Interaction of membrane/lipid rafts with the cytoskeleton: impact on signaling and function: membrane/lipid rafts, mediators of cytoskeletal arrangement and cell signaling. Biochim Biophys Acta 1838:532–545
Article
CAS
Google Scholar
Chen A, Beetham H, Black MA et al (2014) E-cadherin loss alters cytoskeletal organization and adhesion in non-malignant breast cells but is insufficient to induce an epithelial-mesenchymal transition. BMC Cancer 14:552
Article
CAS
PubMed
PubMed Central
Google Scholar
Godwin TD, Kelly ST, Brew TP et al (2019) E-cadherin-deficient cells have synthetic lethal vulnerabilities in plasma membrane organisation, dynamics and function. Gastric Cancer 22:273–286
Article
CAS
PubMed
Google Scholar
Choi YJ, Kim N (2016) Gastric cancer and family history. Korean J Intern Med 31:1042–1053
Article
CAS
PubMed
PubMed Central
Google Scholar
Vogelaar IP, van der Post RS, van de Vosse E et al (2015) Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation. Fam Cancer 14:89–94
Article
CAS
PubMed
Google Scholar
Syngal S, Brand RE, Church JM et al (2015) ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 110:223–262; quiz 263
Article
PubMed
PubMed Central
Google Scholar
van der Post RS, Carneiro F (2017) Emerging concepts in gastric neoplasia: heritable gastric cancers and polyposis disorders. Surg Pathol Clin 10:931–945
Article
PubMed
Google Scholar
Repak R, Kohoutova D, Podhola M et al (2016) The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature. Gastrointest Endosc 84:718–725
Article
PubMed
Google Scholar
Yanaru-Fujisawa R, Nakamura S, Moriyama T et al (2012) Familial fundic gland polyposis with gastric cancer. Gut 61:1103–1104
Article
PubMed
Google Scholar
Beer A, Streubel B, Asari R et al (2017) Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS)—a rare recently described gastric polyposis syndrome - report of a case. Z Gastroenterol 55:1131–1134
Article
PubMed
Google Scholar
Mitsui Y, Yokoyama R, Fujimoto S et al (2018) First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline mutation of the APC exon 1B promoter region. Gastric Cancer 21:1058–1063
Article
CAS
PubMed
Google Scholar
de Boer WB, Ee H, Kumarasinghe MP (2018) Neoplastic lesions of gastric adenocarcinoma and proximal polyposis syndrome (GAPPS) are gastric phenotype. Am J Surg Pathol 42:1–8
PubMed
Google Scholar
Bray F, Ferlay J, Soerjomataram I et al (2018) Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 68:394–424
Article
Google Scholar