Literature DB >> 28425982

CDH1 germline mutations: different syndromes, same management?

Patrick R Benusiglio1.   

Abstract

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Year:  2017        PMID： 28425982     DOI： 10.1038/gim.2017.24

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  14 in total

1.  Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

Authors:  Samantha Hansford; Pardeep Kaurah; Hector Li-Chang; Michelle Woo; Janine Senz; Hugo Pinheiro; Kasmintan A Schrader; David F Schaeffer; Karey Shumansky; George Zogopoulos; Teresa Almeida Santos; Isabel Claro; Joana Carvalho; Cydney Nielsen; Sarah Padilla; Amy Lum; Aline Talhouk; Katie Baker-Lange; Sue Richardson; Ivy Lewis; Noralane M Lindor; Erin Pennell; Andree MacMillan; Bridget Fernandez; Gisella Keller; Henry Lynch; Sohrab P Shah; Parry Guilford; Steven Gallinger; Giovanni Corso; Franco Roviello; Carlos Caldas; Carla Oliveira; Paul D P Pharoah; David G Huntsman
Journal:  JAMA Oncol       Date:  2015-04       Impact factor: 31.777

2.  Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature.

Authors:  Farouq K Ababneh; Abdulrahman Al-Swaid; Ahmed Elhag; Talaat Youssef; Saif Alsaif
Journal:  Am J Med Genet A       Date:  2014-04-09       Impact factor: 2.802

3.  CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.

Authors:  Irma Kluijt; Ester J M Siemerink; Margreet G E M Ausems; Theo A M van Os; Daphne de Jong; Joana Simões-Correia; J Han van Krieken; Marjolijn J Ligtenberg; Joana Figueiredo; Els van Riel; Rolf H Sijmons; John T M Plukker; Richard van Hillegersberg; Evelien Dekker; Carla Oliveira; Annemieke Cats; Nicoline Hoogerbrugge
Journal:  Int J Cancer       Date:  2011-10-23       Impact factor: 7.396

4.  Blepharo-cheilo-dontic (BCD) syndrome.

Authors:  R J Gorlin; H Zellweger; M W Curtis; H R Wiedemann; M Warburg; F Majewski; G Gillessen-Kaesbach; B Prahl-Andersen; E Zackai
Journal:  Am J Med Genet       Date:  1996-10-16

5.  p120 catenin is required for morphogenetic movements involved in the formation of the eyes and the craniofacial skeleton in Xenopus.

Authors:  Malgorzata Ciesiolka; Mieke Delvaeye; Griet Van Imschoot; Veerle Verschuere; Pierre McCrea; Frans van Roy; Kris Vleminckx
Journal:  J Cell Sci       Date:  2004-08-03       Impact factor: 5.285

6.  Trends in incidence rates of invasive lobular and ductal breast carcinoma.

Authors:  Christopher I Li; Benjamin O Anderson; Janet R Daling; Roger E Moe
Journal:  JAMA       Date:  2003-03-19       Impact factor: 56.272

7.  Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications.

Authors:  William M Rogers; Erika Dobo; Jeffrey A Norton; Jacques Van Dam; R Brooke Jeffrey; David G Huntsman; Kerry Kingham; Nicki Chun; James M Ford; Teri A Longacre
Journal:  Am J Surg Pathol       Date:  2008-06       Impact factor: 6.394

8.  Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.

Authors:  Ingrid P Vogelaar; Joana Figueiredo; Iris A L M van Rooij; Joana Simões-Correia; Rachel S van der Post; Soraia Melo; Raquel Seruca; Carine E L Carels; Marjolijn J L Ligtenberg; Nicoline Hoogerbrugge
Journal:  Hum Mol Genet       Date:  2012-11-29       Impact factor: 6.150

9.  Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.

Authors:  K Nicole Weaver; Katherine D Rutledge; John H Grant; Nathaniel H Robin
Journal:  Am J Med Genet A       Date:  2010-02       Impact factor: 2.802

Review 10.  Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.

Authors:  Rachel S van der Post; Ingrid P Vogelaar; Fátima Carneiro; Parry Guilford; David Huntsman; Nicoline Hoogerbrugge; Carlos Caldas; Karen E Chelcun Schreiber; Richard H Hardwick; Margreet G E M Ausems; Linda Bardram; Patrick R Benusiglio; Tanya M Bisseling; Vanessa Blair; Eveline Bleiker; Alex Boussioutas; Annemieke Cats; Daniel Coit; Lynn DeGregorio; Joana Figueiredo; James M Ford; Esther Heijkoop; Rosella Hermens; Bostjan Humar; Pardeep Kaurah; Gisella Keller; Jennifer Lai; Marjolijn J L Ligtenberg; Maria O'Donovan; Carla Oliveira; Hugo Pinheiro; Krish Ragunath; Esther Rasenberg; Susan Richardson; Franco Roviello; Hans Schackert; Raquel Seruca; Amy Taylor; Anouk Ter Huurne; Marc Tischkowitz; Sheena Tjon A Joe; Benjamin van Dijck; Nicole C T van Grieken; Richard van Hillegersberg; Johanna W van Sandick; Rianne Vehof; J Han van Krieken; Rebecca C Fitzgerald
Journal:  J Med Genet       Date:  2015-05-15       Impact factor: 6.318
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  1 in total

1.  Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.

Authors:  Amy Taylor; Angela F Brady; Ian M Frayling; Helen Hanson; Marc Tischkowitz; Clare Turnbull; Lucy Side
Journal:  J Med Genet       Date:  2018-04-16       Impact factor: 6.318
  1 in total

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