Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

被引：0

作者：

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

机构：

[1] National Cancer Institute,Division of Cancer Epidemiology and Genetics, US Department of Health and Human Services

[2] US National Institutes of Health,Department of Dermatology

[3] Maurizio Bufalini Hospital,Department of Dermatology

[4] University of L'Aquila,Department of Internal Medicine and Medical Specialties

[5] University of Genoa,Department of Dermatology

[6] Genetics of Rare Hereditary Cancers,Department of Dermatology

[7] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Martino–IST Istituto Nazionale per la Ricerca sul Cancro,Department of Dermatology

[8] Service de Génétique,Department of Human Genetics

[9] Gustave Roussy,US Department of Health and Human Services

[10] Instituto Valenciano de Oncología,Department of Biotechnological and Applied Clinical Sciences

[11] Universidad Católica de Valencia,undefined

[12] Université Paris Descartes,undefined

[13] Assistance Publique–Hôpitaux de Paris (AP-HP),undefined

[14] Hôpital Cochin,undefined

[15] Cancer Genomics Research Laboratory,undefined

[16] NCI-Frederick,undefined

[17] SAIC-Frederick,undefined

[18] Inc.,undefined

[19] Frederick,undefined

[20] Maryland,undefined

[21] USA.,undefined

[22] Hospital General Universitario de Alicante,undefined

[23] Laboratory of Molecular Biology,undefined

[24] Instituto Valenciano de Oncología,undefined

[25] INSERM,undefined

[26] UMR 946,undefined

[27] Genetic Variation and Human Diseases Unit,undefined

[28] Université Paris Diderot,undefined

[29] Sorbonne Paris Cité,undefined

[30] Institut Universitaire d'Hématologie,undefined

[31] McGill University and Génome Québec Innovation Centre,undefined

[32] McGill University,undefined

[33] SAS Quantome,undefined

[34] Laboratory of Molecular Gerontology,undefined

[35] National Institute on Aging,undefined

[36] US National Institutes of Health,undefined

[37] Section of Medical Sciences,undefined

[38] School of Molecular Biosciences,undefined

[39] Washington State University,undefined

[40] University of L'Aquila,undefined

[41] SAIC-Frederick,undefined

[42] Inc.,undefined

[43] Frederick National Laboratory for Cancer Research,undefined

[44] Simulation,undefined

[45] Analysis and Mathematical Modeling Group,undefined

[46] Advanced Biomedical Computing Center,undefined

[47] Université Paris–Sud,undefined

[48] Kremlin Bicêtre France,undefined

[49] Gustave Roussy,undefined

[50] Fondation Jean Dausset–Centre d'Etude du Polymorphisme Humain (CEPH),undefined

来源：

Nature Genetics | 2014年 / 46卷

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学科分类号：

摘要：

Maria Teresa Landi and colleagues identify a rare missense variant in POT1 shared by five melanoma-prone families from Italy and associated with increased telomere length and telomere fragility. They also identify additional familial melanoma cases with rare missense variants in POT1 and find a significant excess of rare exonic POT1 variants in melanoma cases compared to controls, implicating POT1 variants in melanoma susceptibility.

引用

页码：482 / 486

页数：4

共 50 条

[1] 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
[2] Mutations in POT1 predispose to familial cutaneous malignant melanoma
Trigueros-Motos, L.
CLINICAL GENETICS, 2014, 86 (03) : 217 - U109
[3] 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
[4] 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
[5] POT1 mutations predispose to familial melanoma
Robles-Espinoza, Carla Daniela
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Ramsay, Andrew J.
Aoude, Lauren G.
Quesada, Victor
Ding, Zhihao
Pooley, Karen A.
Pritchard, Antonia L.
Tiffen, Jessamy C.
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Symmons, Judith
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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)
[6] 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
[7] 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
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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)
[8] 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
[9] Germline POT1 Variants Can Predispose to a Variety of Hematologic Neoplasms
Lim, Tristan L.
Lieberman, David B.
Davis, Adam R.
Hausler, Ryan
Bigdeli, Ashkan
Li, Yimei
Powers, Jacquelyn
Carty, Shannon A.
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Bagg, Adam
Hexner, Elizabeth O.
Maxwell, Kara N.
Morrissette, Jennifer J. D.
Babushok, Daria V.
BLOOD, 2020, 136
[10] Germline POT1 variants can predispose to myeloid and lymphoid neoplasms
Lim, Tristan L.
Lieberman, David B.
Davis, Adam R.
Loren, Alison W.
Hausler, Ryan
Bigdeli, Ashkan
Li, Yimei
Powers, Jacquelyn
Raper, Anna
Carty, Shannon A.
Nathanson, Katherine L.
Bagg, Adam
Hexner, Elizabeth O.
Maxwell, Kara N.
Morrissette, Jennifer J. D.
Babushok, Daria V.
LEUKEMIA, 2022, 36 (01) : 283 - 287

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