Lauren P. 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. 1965;64:31–49.
Chung DC, Haber DA. Massachusetts General Hospital. Principles of clinical cancer genetics: a handbook from the Massachusetts General Hospital. New York: Springer; 2010. xi, 227 p. p.
van der Kaaij RT, Koemans WJ, van Putten M, Snaebjornsson P, Luijten J, van Dieren JM, et al. A population-based study on intestinal and diffuse type adenocarcinoma of the oesophagus and stomach in the Netherlands between 1989 and 2015. Eur J Cancer. 2020;130:23–31.
Mukkamalla SKR, Recio-Boiles A, Babiker HM. Gastric Cancer. StatPearls. Treasure Island (FL)2024.
Setia N, Clark JW, Duda DG, Hong TS, Kwak EL, Mullen JT, Lauwers GY. Familial Gastric Cancers Oncologist. 2015;20(12):1365–77.
Blair VR, McLeod M, Carneiro F, Coit DG, D’Addario JL, van Dieren JM, et al. Hereditary diffuse gastric cancer: updated clinical practice guidelines. Lancet Oncol. 2020;21(8):e386–97.
Rona KA, Schwameis K, Zehetner J, Samakar K, Green K, Samaan J, et al. Gastric cancer in the young: an advanced disease with poor prognostic features. J Surg Oncol. 2017;115(4):371–5.
Ryan CE, Fasaye GA, Gallanis AF, Gamble LA, McClelland PH, Duemler A et al. Germline CDH1 variants and Lifetime Cancer Risk. JAMA. 2024.
Xicola RM, Li S, Rodriguez N, Reinecke P, Karam R, Speare V, et al. Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria. J Med Genet. 2019;56(12):838–43.
Roberts ME, Ranola JMO, Marshall ML, Susswein LR, Graceffo S, Bohnert K, et al. Comparison of CDH1 Penetrance estimates in clinically ascertained families vs families ascertained for multiple gastric cancers. JAMA Oncol. 2019;5(9):1325–31.
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, et al. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on genetic Tumour Risk syndromes. Lancet Oncol. 2023;24(1):91–106.
Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, et al. E-cadherin germline mutations in familial gastric cancer. Nature. 1998;392(6674):402–5.
Guilford PJ, Hopkins JB, Grady WM, Markowitz SD, Willis J, Lynch H, et al. E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Hum Mutat. 1999;14(3):249–55.
Baum B, Georgiou M. Dynamics of adherens junctions in epithelial establishment, maintenance, and remodeling. J Cell Biol. 2011;192(6):907–17.
Monster JL, Kemp LJ, Busslinger GA, Vliem MJ, Derks LL, Staes AA, et al. Cell division-dependent dissemination following E-cadherin loss underlies initiation of diffuse-type gastric cancer. J Pathol. 2024;263(2):226–41.
Corso G, Magnoni F, Massari G, Trovato CM, De Scalzi AM, Vicini E, et al. CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome. J Med Genet. 2022;59(4):313–7.
Corso G, Corso F, Bellerba F, Carneiro P, Seixas S, Cioffi A et al. Geographical distribution of E-cadherin germline mutations in the context of diffuse gastric Cancer: a systematic review. Cancers (Basel). 2021;13(6).
De Scalzi AM, Bonanni B, Galimberti V, Veronesi P, Pravettoni G, Corso G. E-cadherin germline mutations in Maori population. Future Oncol. 2019;15(12):1291–4.
Lobo S, Benusiglio PR, Coulet F, Boussemart L, Golmard L, Spier I, et al. Cancer predisposition and germline CTNNA1 variants. Eur J Med Genet. 2021;64(10):104316.
Benjamin JM, Nelson WJ. Bench to bedside and back again: molecular mechanisms of alpha-catenin function and roles in tumorigenesis. Semin Cancer Biol. 2008;18(1):53–64.
Bhattacharya P, Leslie SW, McHugh TW. Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer). StatPearls. Treasure Island (FL)2024.
Zhang C, Zhu D, Qu Y, Shi M, Ma J, Peng Y, et al. Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study. J Med Genet. 2023;60(8):760–8.
Oh SY, Jang G, Kim J, Jeong KY, Kim HM, Kwak YJ et al. Identification of New Pathogenic variants of Hereditary diffuse gastric Cancer. Cancer Res Treat. 2024.
Herrera-Pariente C, Bonjoch L, Munoz J, Fernandez G, Soares de Lima Y, Mahmood R, et al. CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions. Gastric Cancer. 2024;27(4):747–59.
Figueiredo J, Melo S, Carneiro P, Moreira AM, Fernandes MS, Ribeiro AS, et al. Clinical spectrum and pleiotropic nature of CDH1 germline mutations. J Med Genet. 2019;56(4):199–208.
Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, et al. Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. Eur J Hum Genet. 2018;26(2):210–9.
Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP, et al. Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. Genet Med. 2017;19(9):1013–21.
Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, et al. Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat Genet. 2016;48(2):144–51.
Tanner A, Chan HW, Pulido JS, Arno G, Ba-Abbad R, Jurkute N, et al. Clinical and genetic findings in CTNNA1-Associated Macular Pattern dystrophy. Ophthalmology. 2021;128(6):952–5.
Pharoah PD, Guilford P, Caldas C, International Gastric Cancer Linkage C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology. 2001;121(6):1348–53.
Corso G, Comelli G, Veronesi P, Bianchi B, Petitto S, Polizzi A, et al. Germline CDH1 variants in hereditary diffuse gastric cancer syndrome with focus on younger women. J Cancer Res Clin Oncol. 2023;149(17):16147–55.
Coudert M, Drouet Y, Delhomelle H, Svrcek M, Benusiglio PR, Coulet F, et al. First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants. J Med Genet. 2022;59(12):1189–95.
Tsugeno Y, Nakano K, Nakajima T, Namikawa K, Takamatsu M, Yamamoto N, et al. Histopathologic analysis of Signet-ring cell Carcinoma in situ in patients with Hereditary diffuse gastric Cancer. Am J Surg Pathol. 2020;44(9):1204–12.
Forrester JD, Foster D, Ford JM, Longacre TA, Ladabaum U, Fry S, Norton JA. Surgery for Hereditary diffuse gastric Cancer: long-term outcomes. Cancers (Basel). 2022;14(3).
McGarragle KM, Hart TL, Swallow C, Brar S, Govindarajan A, Cohen Z, Aronson M. Barriers and facilitators to CDH1 carriers contemplating or undergoing prophylactic total gastrectomy. Fam Cancer. 2021;20(2):157–69.
Vos EL, Salo-Mullen EE, Tang LH, Schattner M, Yoon SS, Gerdes H, et al. Indications for total gastrectomy in CDH1 mutation carriers and outcomes of risk-reducing minimally invasive and open gastrectomies. JAMA Surg. 2020;155(11):1050–7.
van der Kaaij RT, van Kessel JP, van Dieren JM, Snaebjornsson P, Balague O, van Coevorden F, et al. Outcomes after prophylactic gastrectomy for hereditary diffuse gastric cancer. Br J Surg. 2018;105(2):e176–82.
Ithurralde-Argerich J, Rosner L, Rizzolo M, Faerberg A, Puma R, Ferro D, et al. Laparoscopic prophylactic total gastrectomy for Hereditary diffuse gastric Cancer in CDH1 mutation carriers. J Laparoendosc Adv Surg Tech A. 2021;31(7):729–37.
Hallowell N, Lawton J, Badger S, Richardson S, Hardwick RH, Caldas C, Fitzgerald RC. The Psychosocial Impact of undergoing prophylactic total gastrectomy (PTG) to manage the risk of Hereditary diffuse gastric Cancer (HDGC). J Genet Couns. 2017;26(4):752–62.
Gallanis AF, Gamble LA, Samaranayake SG, Lopez R, Rhodes A, Rajasimhan S, et al. Costs of Cancer Prevention: physical and psychosocial sequelae of risk-reducing total gastrectomy. J Clin Oncol. 2024;42(4):421–30.
Laszkowska M, Silver ER, Schrope B, Kastrinos F, Wang TC, Hur C. Optimal timing of total gastrectomy to prevent diffuse gastric Cancer in individuals with pathogenic variants in CDH1. Clin Gastroenterol Hepatol. 2020;18(4):822–9. e4.
Castro R, Lobo J, Pita I, Videira F, Pedro-Afonso L, Dinis-Ribeiro M, Brandao C. Random biopsies in patients harboring a CDH1 mutation: time to change the approach? Rev Esp Enferm Dig. 2020;112(5):367–72.
Benesch MGK, Bursey SR, O’Connell AC, Ryan MG, Howard CL, Stockley CC, Mathieson A. CDH1 Gene Mutation Hereditary diffuse gastric Cancer outcomes: analysis of a large cohort, Systematic Review of Endoscopic Surveillance, and secondary Cancer risk postulation. Cancers (Basel). 2021;13(11).
Mi EZ, Mi EZ, di Pietro M, O’Donovan M, Hardwick RH, Richardson S, et al. Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. Gastrointest Endosc. 2018;87(2):408–18.
Curtin BF, Gamble LA, Schueler SA, Ruff SM, Quezado M, Miettinen M, et al. Enhanced endoscopic detection of occult gastric cancer in carriers of pathogenic CDH1 variants. J Gastroenterol. 2021;56(2):139–46.
Fujita H, Lennerz JK, Chung DC, Patel D, Deshpande V, Yoon SS, Lauwers GY. Endoscopic surveillance of patients with hereditary diffuse gastric cancer: biopsy recommendations after topographic distribution of cancer foci in a series of 10 CDH1-mutated gastrectomies. Am J Surg Pathol. 2012;36(11):1709–17.
Buckley KH, Tondon R, Guilford P, Katona BW. Non-targeted biopsies in hereditary diffuse gastric cancer: necessary, but not enough. Transl Cancer Res. 2023;12(7):1883–6.
van Dieren JM, Kodach LL, den Hartog P, van der Kolk LE, Sikorska K, van Velthuysen MF, et al. Gastroscopic surveillance with targeted biopsies compared with random biopsies in CDH1 mutation carriers. Endoscopy. 2020;52(10):839–46.
Asif B, Sarvestani AL, Gamble LA, Samaranayake SG, Famiglietti AL, Fasaye GA, et al. Cancer surveillance as an alternative to prophylactic total gastrectomy in hereditary diffuse gastric cancer: a prospective cohort study. Lancet Oncol. 2023;24(4):383–91.
Lee CYC, Olivier A, Honing J, Lydon AM, Richardson S, O’Donovan M, et al. Endoscopic surveillance with systematic random biopsy for the early diagnosis of hereditary diffuse gastric cancer: a prospective 16-year longitudinal cohort study. Lancet Oncol. 2023;24(1):107–16.
van Dieren JM, van der Post RS, Bisseling TM. Shifting perceptions on endoscopic surveillance and timing of prophylactic gastrectomy for hereditary diffuse gastric cancer. Br J Surg. 2023;110(9):1028–9.
van der Post RS, Bisseling TM, van Dieren JM. Endoscopic surveillance: time for a paradigm shift in hereditary diffuse-type gastric cancer management? Lancet Oncol. 2023;24(4):311–2.
Humar B, Fukuzawa R, Blair V, Dunbier A, More H, Charlton A, et al. Destabilized adhesion in the gastric proliferative zone and c-Src kinase activation mark the development of early diffuse gastric cancer. Cancer Res. 2007;67(6):2480–9.
Rocha JP, Gullo I, Wen X, Devezas V, Baptista M, Oliveira C, Carneiro F. Pathological features of total gastrectomy specimens from asymptomatic hereditary diffuse gastric cancer patients and implications for clinical management. Histopathology. 2018;73(6):878–86.
Friedman M, Adar T, Patel D, Lauwers GY, Yoon SS, Mullen JT, Chung DC. Surveillance Endoscopy in the management of Hereditary diffuse gastric Cancer syndrome. Clin Gastroenterol Hepatol. 2021;19(1):189–91.
Decourtye-Espiard L, Bougen-Zhukov N, Godwin T, Brew T, Schulpen E, Black MA, Guilford P. E-cadherin-deficient epithelial cells are sensitive to HDAC inhibitors. Cancers (Basel). 2021;14(1).
Guilford ASACBTHBP. Abstract B41: statins show synthetic lethality in e-cadherin-deficient cells and are synergistic with SRC and HDAC inhibitors. Clin Cancer Res. 2017;23(1).
Green BL, Gamble LA, Diggs LP, Nousome D, Patterson JC, Joughin BA, et al. Early Immune Changes Support Signet Ring Cell Dormancy in CDH1-Driven Hereditary diffuse gastric carcinogenesis. Mol Cancer Res. 2023;21(12):1356–65.
Li D, Lo W, Rudloff U. Merging perspectives: genotype-directed molecular therapy for hereditary diffuse gastric cancer (HDGC) and E-cadherin-EGFR crosstalk. Clin Transl Med. 2018;7(1):7.
Brew T, Bougen-Zhukov N, Mitchell W, Decourtye L, Schulpen E, Nouri Y et al. Loss of E-Cadherin leads to Druggable vulnerabilities in Sphingolipid metabolism and vesicle trafficking. Cancers (Basel). 2021;14(1).
Add Comment