Literature DB >> 31259399

POT1 pathogenic variants: not all telomere pathway genes are equal in risk of hereditary cutaneous melanoma.

A E Toland1.   

Abstract

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Year:  2019        PMID： 31259399      PMCID： PMC6604812          DOI： 10.1111/bjd.17728

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  10 in total

1.  Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

Authors:  Alisa M Goldstein; May Chan; Mark Harland; Nicholas K Hayward; Florence Demenais; D Timothy Bishop; Esther Azizi; Wilma Bergman; Giovanna Bianchi-Scarra; William Bruno; Donato Calista; Lisa A Cannon Albright; Valerie Chaudru; Agnes Chompret; Francisco Cuellar; David E Elder; Paola Ghiorzo; Elizabeth M Gillanders; Nelleke A Gruis; Johan Hansson; David Hogg; Elizabeth A Holland; Peter A Kanetsky; Richard F Kefford; Maria Teresa Landi; Julie Lang; Sancy A Leachman; Rona M MacKie; Veronica Magnusson; Graham J Mann; Julia Newton Bishop; Jane M Palmer; Susana Puig; Joan A Puig-Butille; Mitchell Stark; Hensin Tsao; Margaret A Tucker; Linda Whitaker; Emanuel Yakobson
Journal:  J Med Genet       Date:  2006-08-11       Impact factor: 6.318

2.  A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.

Authors:  Tremika Le-Shan Wilson; Namita Hattangady; Antonio Marcondes Lerario; Carmen Williams; Erika Koeppe; Shane Quinonez; Jenae Osborne; Kelly B Cha; Tobias Else
Journal:  Fam Cancer       Date:  2017-10       Impact factor: 2.375

3.  POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families.

Authors:  M Potrony; J A Puig-Butille; M Ribera-Sola; V Iyer; C D Robles-Espinoza; P Aguilera; C Carrera; J Malvehy; C Badenas; M T Landi; D J Adams; S Puig
Journal:  Br J Dermatol       Date:  2019-02-27       Impact factor: 9.302

4.  Highly recurrent TERT promoter mutations in human melanoma.

Authors:  Franklin W Huang; Eran Hodis; Mary Jue Xu; Gregory V Kryukov; Lynda Chin; Levi A Garraway
Journal:  Science       Date:  2013-01-24       Impact factor: 47.728

Review 5.  How shelterin protects mammalian telomeres.

Authors:  Wilhelm Palm; Titia de Lange
Journal:  Annu Rev Genet       Date:  2008       Impact factor: 16.830

6.  Telomere length and the risk of cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations.

Authors:  Laura S Burke; Paula L Hyland; Ruth M Pfeiffer; Jennifer Prescott; William Wheeler; Lisa Mirabello; Sharon A Savage; Laurie Burdette; Meredith Yeager; Stephen Chanock; Immaculata De Vivo; Margaret A Tucker; Alisa M Goldstein; Xiaohong R Yang
Journal:  PLoS One       Date:  2013-08-19       Impact factor: 3.240

7.  Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.

Authors:  Jianxin Shi; Xiaohong R Yang; Bari Ballew; Melissa Rotunno; Donato Calista; Maria Concetta Fargnoli; Paola Ghiorzo; Brigitte Bressac-de Paillerets; Eduardo Nagore; Marie Francoise Avril; Neil E Caporaso; Mary L McMaster; Michael Cullen; Zhaoming Wang; Xijun Zhang; William Bruno; Lorenza Pastorino; Paola Queirolo; Jose Banuls-Roca; Zaida Garcia-Casado; Amaury Vaysse; Hamida Mohamdi; Yasser Riazalhosseini; Mario Foglio; Fanélie Jouenne; Xing Hua; Paula L Hyland; Jinhu Yin; Haritha Vallabhaneni; Weihang Chai; Paola Minghetti; Cristina Pellegrini; Sarangan Ravichandran; Alexander Eggermont; Mark Lathrop; Ketty Peris; Giovanna Bianchi Scarra; Giorgio Landi; Sharon A Savage; Joshua N Sampson; Ji He; Meredith Yeager; Lynn R Goldin; Florence Demenais; Stephen J Chanock; Margaret A Tucker; Alisa M Goldstein; Yie Liu; Maria Teresa Landi
Journal:  Nat Genet       Date:  2014-03-30       Impact factor: 38.330

8.  POT1 loss-of-function variants predispose to familial melanoma.

Authors:  Carla Daniela Robles-Espinoza; Mark Harland; Andrew J Ramsay; Lauren G Aoude; Víctor Quesada; Zhihao Ding; Karen A Pooley; Antonia L Pritchard; Jessamy C Tiffen; Mia Petljak; Jane M Palmer; Judith Symmons; Peter Johansson; Mitchell S Stark; Michael G Gartside; Helen Snowden; Grant W Montgomery; Nicholas G Martin; Jimmy Z Liu; Jiyeon Choi; Matthew Makowski; Kevin M Brown; Alison M Dunning; Thomas M Keane; Carlos López-Otín; Nelleke A Gruis; Nicholas K Hayward; D Timothy Bishop; Julia A Newton-Bishop; David J Adams
Journal:  Nat Genet       Date:  2014-03-30       Impact factor: 38.330

9.  Germline TERT promoter mutations are rare in familial melanoma.

Authors:  Mark Harland; Mia Petljak; Carla Daniela Robles-Espinoza; Zhihao Ding; Nelleke A Gruis; Remco van Doorn; Karen A Pooley; Alison M Dunning; Lauren G Aoude; Karin A W Wadt; Anne-Marie Gerdes; Kevin M Brown; Nicholas K Hayward; Julia A Newton-Bishop; David J Adams; D Timothy Bishop
Journal:  Fam Cancer       Date:  2016-01       Impact factor: 2.375

10.  Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Authors:  Thomas P Potjer; Sander Bollen; Anneliese J E M Grimbergen; Remco van Doorn; Nelleke A Gruis; Christi J van Asperen; Frederik J Hes; Nienke van der Stoep
Journal:  Int J Cancer       Date:  2019-01-21       Impact factor: 7.396
  10 in total
  1 in total

Review 1.  Genetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review.

Authors:  Nikola Serman; Semir Vranic; Mislav Glibo; Ljiljana Serman; Zrinka Bukvic Mokos
Journal:  Bosn J Basic Med Sci       Date:  2022-09-16       Impact factor: 3.759
  1 in total

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