Literature DB >> 26827760

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families.

Nicholas J Taylor1, Elizabeth A Handorf2, Nandita Mitra3, Marie-Françoise Avril4, Esther Azizi5, Wilma Bergman6, Giovanna Bianchi-Scarrà7, D Timothy Bishop8, Brigitte Bressac-de Paillerets9, Donato Calista10, Lisa A Cannon-Albright11, Francisco Cuellar12, Anne E Cust13, Florence Demenais14, David E Elder15, Eitan Friedman16, Anne-Marie Gerdes17, Paola Ghiorzo7, Alisa M Goldstein18, Thais C Grazziotin19, Johan Hansson20, Nicholas K Hayward21, Marko Hocevar22, Veronica Höiom20, Elizabeth A Holland23, Christian Ingvar24, Maria Teresa Landi18, Gilles Landman25, Alejandra Larre-Borges26, Sancy A Leachman27, Graham J Mann23, Eduardo Nagore28, Håkan Olsson23, Jane Palmer21, Barbara Perić22, Dace Pjanova29, Susana Puig12, Helen Schmid23, Nienke van der Stoep6, Margaret A Tucker18, Karin A W Wadt17, Linda Whitaker8, Xiaohong R Yang18, Julia A Newton Bishop8, Nelleke A Gruis6, Peter A Kanetsky30.   

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Year:  2016        PMID: 26827760      PMCID: PMC5287416          DOI: 10.1016/j.jid.2016.01.009

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


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  15 in total

1.  CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma/neurofibroma kindred.

Authors:  F Petronzelli; D Sollima; G Coppola; M E Martini-Neri; G Neri; M Genuardi
Journal:  Genes Chromosomes Cancer       Date:  2001-08       Impact factor: 5.006

2.  Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.

Authors:  Miriam Potrony; Joan Anton Puig-Butillé; Paula Aguilera; Celia Badenas; Cristina Carrera; Josep Malvehy; Susana Puig
Journal:  J Am Acad Dermatol       Date:  2014-07-24       Impact factor: 11.527

Review 3.  Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: A consensus statement of the Melanoma Genetics Consortium.

Authors:  R F Kefford; J A Newton Bishop; W Bergman; M A Tucker
Journal:  J Clin Oncol       Date:  1999-10       Impact factor: 44.544

4.  Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population.

Authors:  M G FitzGerald; D P Harkin; S Silva-Arrieta; D J MacDonald; L C Lucchina; H Unsal; E O'Neill; J Koh; D M Finkelstein; K J Isselbacher; A J Sober; D A Haber
Journal:  Proc Natl Acad Sci U S A       Date:  1996-08-06       Impact factor: 11.205

5.  Population-based analysis of prognostic factors and survival in familial melanoma.

Authors:  Scott R Florell; Kenneth M Boucher; Gilda Garibotti; John Astle; Richard Kerber; Geraldine Mineau; Charles Wiggins; R Dirk Noyes; Alexander Tsodikov; Lisa A Cannon-Albright; John J Zone; Wolfram E Samlowski; Sancy A Leachman
Journal:  J Clin Oncol       Date:  2005-10-01       Impact factor: 44.544

6.  High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families.

Authors:  A Borg; T Sandberg; K Nilsson; O Johannsson; M Klinker; A Måsbäck; J Westerdahl; H Olsson; C Ingvar
Journal:  J Natl Cancer Inst       Date:  2000-08-02       Impact factor: 13.506

7.  A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).

Authors:  Mark Harland; Alisa M Goldstein; Kairen Kukalizch; Claire Taylor; David Hogg; Susana Puig; Celia Badenas; Nelleke Gruis; Jeanet ter Huurne; Wilma Bergman; Nicholas K Hayward; Mitchell Stark; Hensin Tsao; Margaret A Tucker; Maria Teresa Landi; Giovanna Bianchi Scarra; Paola Ghiorzo; Peter A Kanetsky; David Elder; Graham J Mann; Elizabeth A Holland; D Timothy Bishop; Julia Newton Bishop
Journal:  Eur J Cancer       Date:  2008-04-03       Impact factor: 9.162

8.  Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant.

Authors:  Thomas P Potjer; Heidi E Kranenburg; Wilma Bergman; Wouter H de Vos tot Nederveen Cappel; Hester S van Monsjou; Daniela Q C M Barge-Schaapveld; Hans F A Vasen
Journal:  Eur J Hum Genet       Date:  2014-09-17       Impact factor: 4.246

9.  Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families.

Authors:  Femke A de Snoo; D Timothy Bishop; Wilma Bergman; Inge van Leeuwen; Clasine van der Drift; Frans A van Nieuwpoort; Coby J Out-Luiting; Hans F Vasen; Jeanet A C ter Huurne; Rune R Frants; Rein Willemze; Martijn H Breuning; Nelleke A Gruis
Journal:  Clin Cancer Res       Date:  2008-11-01       Impact factor: 12.531

10.  High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.

Authors:  Hildur Helgadottir; Veronica Höiom; Göran Jönsson; Rainer Tuominen; Christian Ingvar; Ake Borg; Håkan Olsson; Johan Hansson
Journal:  J Med Genet       Date:  2014-06-16       Impact factor: 6.318

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  4 in total

1.  Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.

Authors:  Nicholas J Taylor; Nandita Mitra; Lu Qian; Marie-Françoise Avril; D Timothy Bishop; Brigitte Bressac-de Paillerets; William Bruno; Donato Calista; Francisco Cuellar; Anne E Cust; Florence Demenais; David E Elder; Anne-Marie Gerdes; Paola Ghiorzo; Alisa M Goldstein; Thais C Grazziotin; Nelleke A Gruis; Johan Hansson; Mark Harland; Nicholas K Hayward; Marko Hocevar; Veronica Höiom; Elizabeth A Holland; Christian Ingvar; Maria Teresa Landi; Gilles Landman; Alejandra Larre-Borges; Graham J Mann; Eduardo Nagore; Håkan Olsson; Jane M Palmer; Barbara Perić; Dace Pjanova; Antonia L Pritchard; Susana Puig; Helen Schmid; Nienke van der Stoep; Margaret A Tucker; Karin A W Wadt; Xiaohong R Yang; Julia A Newton-Bishop; Peter A Kanetsky
Journal:  J Am Acad Dermatol       Date:  2019-02-05       Impact factor: 11.527

2.  Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.

Authors:  Nicholas J Taylor; Nandita Mitra; Alisa M Goldstein; Margaret A Tucker; Marie-Françoise Avril; Esther Azizi; Wilma Bergman; D Timothy Bishop; Brigitte Bressac-de Paillerets; William Bruno; Donato Calista; Lisa A Cannon-Albright; Francisco Cuellar; Anne E Cust; Florence Demenais; David E Elder; Anne-Marie Gerdes; Paola Ghiorzo; Thais C Grazziotin; Johan Hansson; Mark Harland; Nicholas K Hayward; Marko Hocevar; Veronica Höiom; Christian Ingvar; Maria Teresa Landi; Gilles Landman; Alejandra Larre-Borges; Sancy A Leachman; Graham J Mann; Eduardo Nagore; Håkan Olsson; Jane M Palmer; Barbara Perić; Dace Pjanova; Antonia Pritchard; Susana Puig; Nienke van der Stoep; Karin A W Wadt; Linda Whitaker; Xiaohong R Yang; Julia A Newton Bishop; Nelleke A Gruis; Peter A Kanetsky
Journal:  J Invest Dermatol       Date:  2017-08-19       Impact factor: 8.551

3.  Histologic features of melanoma associated with germline mutations of CDKN2A, CDK4, and POT1 in melanoma-prone families from the United States, Italy, and Spain.

Authors:  Michael R Sargen; Donato Calista; David E Elder; Daniela Massi; Emily Y Chu; Míriam Potrony; Ruth M Pfeiffer; Cristina Carrera; Paula Aguilera; Llucia Alos; Susana Puig; Rosalie Elenitsas; Xiaohong R Yang; Margaret A Tucker; Maria Teresa Landi; Alisa M Goldstein
Journal:  J Am Acad Dermatol       Date:  2020-04-10       Impact factor: 11.527

4.  Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3.

Authors:  Juliette Delaunay; Ludovic Martin; Brigitte Bressac-de Paillerets; Gerard Duru; Olivier Ingster; Luc Thomas
Journal:  JAMA Dermatol       Date:  2017-11-01       Impact factor: 10.282

  4 in total

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