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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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

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