Mutations in POT1 predispose to familial cutaneous malignant melanoma

被引：9
|
作者：
Trigueros-Motos, L. [1 ]
机构：
[1] Natl Univ Singapore, A STAR, TLGM, Singapore 138648, Singapore
来源：
CLINICAL GENETICS | 2014年 / 86卷 / 03期
关键词：
D O I：
10.1111/cge.12416
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
POT1 loss-of-function variants predispose to familial melanoma Robles-Espinoza et al. (2014) Nat Genet 46(5):478-481 Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma Shi et al. (2014) Nat Genet 46(5):482-486. © 2014 John Wiley & Sons A/S.
引用
收藏
页码：217 / U109
页数：2
相关论文
共 50 条
  • [1] POT1 mutations predispose to familial melanoma
    Robles-Espinoza, Carla Daniela
    Harland, Mark
    Ramsay, Andrew J.
    Aoude, Lauren G.
    Quesada, Victor
    Ding, Zhihao
    Pooley, Karen A.
    Pritchard, Antonia L.
    Tiffen, Jessamy C.
    Petljak, Mia
    Palmer, Jane M.
    Symmons, Judith
    Johansson, Peter
    Stark, Mitchell S.
    Gartside, Michael G.
    Snowden, Helen
    Montgomery, Grant W.
    Martin, Nicholas G.
    Liu, Jimmy Z.
    Choi, Jiyeon
    Makowski, Matthew
    Brown, Kevin M.
    Dunning, Alison M.
    Keane, Thomas M.
    Lopez-Otin, Carlos
    Gruis, Nelleke A.
    Hayward, Nicholas K.
    Bishop, D. Timothy
    Newton-Bishop, Julia A.
    Adams, David J.
    CANCER RESEARCH, 2014, 74 (23)
  • [2] Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
    Shi, Jianxin
    Yang, Xiaohong R.
    Ballew, Bari
    Rotunno, Melissa
    Calista, Donato
    Fargnoli, Maria Concetta
    Ghiorzo, Paola
    Paillerets, Brigitte Bressac-de
    Nagore, Eduardo
    Avri, Marie Francoise
    Caporaso, Neil E.
    McMaster, Mary L.
    Cullen, Michael
    Wang, Zhaoming
    Zhang, Xijun
    Bruno, William
    Pastorino, Lorenza
    Queirolo, Paola
    Banuls-Roca, Jose
    Garcia-Casado, Zaida
    Vaysse, Amaury
    Mohamdi, Hamida
    Riazalhosseini, Yasser
    Foglio, Mario
    Jouenne, Fanelie
    Hual, Xing
    Hyland, Paula L.
    Yin, Jinhu
    Vallabhaneni, Haritha
    Chai, Weihang
    Minghetti, Paola
    Pellegrini, Cristina
    Ravichandran, Sarangan
    Eggermont, Alexander
    Lathrop, Mark
    Peris, Ketty
    Scarra, Giovanna Bianchi
    Landi, Giorgio
    Savage, Sharon A.
    Sampson, Joshua N.
    He, Ji
    Yeager, Meredith
    Goldin, Lynn R.
    Demenais, Florence
    Chanockl, Stephen J.
    Tucker, Margaret A.
    Goldsteinl, Alisa M.
    Liu, Yie
    Landi, Maria Teresa
    NATURE GENETICS, 2014, 46 (05) : 482 - 486
  • [3] Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
    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
    Nature Genetics, 2014, 46 : 482 - 486
  • [4] POT1 loss-of-function variants predispose to familial melanoma
    Robles-Espinoza, Carla Daniela
    Harland, Mark
    Ramsay, Andrew J.
    Aoude, Lauren G.
    Quesada, Victor
    Ding, Zhihao
    Pooley, Karen A.
    Pritchard, Antonia L.
    Tiffen, Jessamy C.
    Petljak, Mia
    Palmer, Jane M.
    Symmons, Judith
    Johansson, Peter
    Stark, Mitchell S.
    Gartside, Michael G.
    Snowden, Helen
    Montgomery, Grant W.
    Martin, Nicholas G.
    Lite, Jimmy Z.
    Choi, Jiyeon
    Makowski, Matthew
    Brown, Kevin M.
    Dunning, Alison M.
    Keane, Thomas M.
    Lopez-Otin, Carlos
    Gruis, Nelleke A.
    Hayward, Nicholas K.
    Bishop, D. Timothy
    Newton-Bishop, Julia A.
    Adams, David J.
    NATURE GENETICS, 2014, 46 (05) : 478 - 481
  • [5] POT1 loss-of-function variants predispose to familial melanoma
    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
    Nature Genetics, 2014, 46 : 478 - 481
  • [6] Exome sequencing identified POT1, a telomere shelterin gene, as a major susceptibility gene for familial cutaneous malignant melanoma
    Shi, Jianxin
    Yang, Xiaohong R.
    Ballew, Bari
    Rotunno, Melissa
    Calista, Donato
    Fargnoli, Maria C.
    Ghiorzo, Paola
    Bressac-de Paillerets, Brigitte
    Nagore, Eduardo
    Hua, Xing
    Hyland, Paula
    Yin, Jinhu
    Vallabhaneni, Haritha
    Chai, Weihang
    Ravichandran, Sarangan
    Eggermont, Alexander
    Lathrop, Mark
    Peris, Ketty
    Bianchi-Scarra, Giovanna
    Landi, Giorgio
    Savage, Sharon
    Sampson, Joshua
    He, Ji
    Yeager, Meredith
    Goldin, Lynn
    Demenais, Florence
    Chanock, Stephen
    Tucker, Margaret
    Goldstein, Alisa
    Liu, Yie
    Landi, Maria T.
    CANCER RESEARCH, 2014, 74 (19)
  • [7] Loss-of-function variants in POT1 predispose to uveal melanoma
    Nathan, Vaishnavi
    Palmer, Jane M.
    Johansson, Peter A.
    Hamilton, Hayley R.
    Warrier, Sunil K.
    Glasson, William
    McGrath, Lindsay A.
    Kahl, Vivian F. S.
    Vasireddy, Raja S.
    Pickett, Hilda A.
    Brooks, Kelly M.
    Pritchard, Antonia L.
    Hayward, Nicholas K.
    JOURNAL OF MEDICAL GENETICS, 2021, 58 (04) : 234 - 236
  • [8] POT1: a genetic link for familial glioma
    Bagcchi, Sanjeet
    LANCET ONCOLOGY, 2015, 16 (01): : E12 - E12
  • [9] POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families
    Potrony, M.
    Puig-Butille, J. A.
    Ribera-Sola, M.
    Iyer, V
    Robles-Espinoza, C. D.
    Aguilera, P.
    Carrera, C.
    Malvehy, J.
    Badenas, C.
    Landi, M. T.
    Adams, D. J.
    Puig, S.
    BRITISH JOURNAL OF DERMATOLOGY, 2019, 181 (01) : 105 - 113
  • [10] Germline POT1 variants can predispose to myeloid and lymphoid neoplasms
    Tristan L. Lim
    David B. Lieberman
    Adam R. Davis
    Alison W. Loren
    Ryan Hausler
    Ashkan Bigdeli
    Yimei Li
    Jacquelyn Powers
    Anna Raper
    Shannon A. Regeneron Genetics Center
    Katherine L. Carty
    Adam Nathanson
    Elizabeth O. Bagg
    Kara N. Hexner
    Jennifer J. D. Maxwell
    Daria V. Morrissette
    Leukemia, 2022, 36 : 283 - 287
12345