Genome-wide association study identifies three new melanoma susceptibility loci

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Barrett, Jennifer H.Karolinska Institutet (author)

Genome-wide association study identifies three new melanoma susceptibility loci

Article/chapterEnglish2011

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2011-10-09
Springer Science and Business Media LLC,2011

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LIBRIS-ID:oai:lup.lub.lu.se:a377bfc7-3220-4e86-aa3b-acc8b4b00ab7
https://lup.lub.lu.se/record/2254203URI
https://doi.org/10.1038/ng.959DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:123530969URI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:art swepub-publicationtype
Subject category:ref swepub-contenttype

Notes

We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10(-5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10(-3): an SNP in ATM (rs1801516, overall P = 3.4 x 10(-9)), an SNP in MX2 (rs45430, P = 2.9 x 10-9) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 x 10(-10)). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 x 10(-7) under a fixed-effects model and P = 1.2 x 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Kirurgi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Surgery hsv//eng
MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Cancer och onkologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Cancer and Oncology hsv//eng

Added entries (persons, corporate bodies, meetings, titles ...)

Iles, Mark M. (author)
Harland, Mark (author)
Taylor, John C. (author)
Aitken, Joanne F. (author)
Andresen, Per Arne (author)
Akslen, Lars A. (author)
Armstrong, Bruce K. (author)
Avril, Marie-Francoise (author)
Azizi, Esther (author)
Bakker, Bert (author)
Bergman, Wilma (author)
Bianchi-Scarra, Giovanna (author)
Bressac-de Paillerets, Brigitte (author)
Calista, Donato (author)
Cannon-Albright, Lisa A. (author)
Corda, Eve (author)
Cust, Anne E. (author)
Debniak, Tadeusz (author)
Duffy, David (author)
Dunning, Alison M. (author)
Easton, Douglas F. (author)
Friedman, Eitan (author)
Galan, Pilar (author)
Ghiorzo, Paola (author)
Giles, Graham G. (author)
Hansson, Johan (author)
Hocevar, Marko (author)
Hoeiom, VeronicaKarolinska Institutet (author)
Hopper, John L. (author)
Ingvar, ChristianLund University,Lunds universitet,Kirurgi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Surgery (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)kir-cin (author)
Janssen, Bart (author)
Jenkins, Mark A. (author)
Jönsson, Göran BLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)onk-gjo (author)
Kefford, Richard F. (author)
Landi, Giorgio (author)
Landi, Maria Teresa (author)
Lang, Julie (author)
Lubinski, Jan (author)
Mackie, Rona (author)
Malvehy, Josep (author)
Martin, Nicholas G. (author)
Molven, Anders (author)
Montgomery, Grant W. (author)
van Nieuwpoort, Frans A. (author)
Novakovic, Srdjan (author)
Olsson, HåkanLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)onk-hol (author)
Pastorino, Lorenza (author)
Puig, Susana (author)
Puig-Butille, Joan Anton (author)
Randerson-Moor, Juliette (author)
Snowden, Helen (author)
Tuominen, RainerKarolinska Institutet (author)
VanBelle, Patricia (author)
van der Stoep, Nienke (author)
Whiteman, David C. (author)
Zelenika, Diana (author)
Han, Jiali (author)
Fang, Shenying (author)
Lee, Jeffrey E. (author)
Wei, Qingyi (author)
Lathrop, G. Mark (author)
Gillanders, Elizabeth M. (author)
Brown, Kevin M. (author)
Goldstein, Alisa M. (author)
Kanetsky, Peter A. (author)
Mann, Graham J. (author)
MacGregor, Stuart (author)
Elder, David E. (author)
Amos, Christopher I. (author)
Hayward, Nicholas K. (author)
Gruis, Nelleke A. (author)
Demenais, Florence (author)
Bishop, Julia A. Newton (author)
Bishop, D. Timothy (author)
Karolinska InstitutetKirurgi, Lund (creator_code:org_t)

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In:Nature Genetics: Springer Science and Business Media LLC43:11, s. 1108-11131546-17181061-4036

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By the author/editor: Barrett, Jennife ...; Iles, Mark M.; Harland, Mark; Taylor, John C.; Aitken, Joanne F ...; Andresen, Per Ar ...; show more...; Akslen, Lars A.; Armstrong, Bruce ...; Avril, Marie-Fra ...; Azizi, Esther; Bakker, Bert; Bergman, Wilma; Bianchi-Scarra, ...; Bressac-de Paill ...; Calista, Donato; Cannon-Albright, ...; Corda, Eve; Cust, Anne E.; Debniak, Tadeusz; Duffy, David; Dunning, Alison ...; Easton, Douglas ...; Friedman, Eitan; Galan, Pilar; Ghiorzo, Paola; Giles, Graham G.; Hansson, Johan; Hocevar, Marko; Hoeiom, Veronica; Hopper, John L.; Ingvar, Christia ...; Janssen, Bart; Jenkins, Mark A.; Jönsson, Göran B; Kefford, Richard ...; Landi, Giorgio; Landi, Maria Ter ...; Lang, Julie; Lubinski, Jan; Mackie, Rona; Malvehy, Josep; Martin, Nicholas ...; Molven, Anders; Montgomery, Gran ...; van Nieuwpoort, ...; Novakovic, Srdja ...; Olsson, Håkan; Pastorino, Loren ...; Puig, Susana; Puig-Butille, Jo ...; Randerson-Moor, ...; Snowden, Helen; Tuominen, Rainer; VanBelle, Patric ...; van der Stoep, N ...; Whiteman, David ...; Zelenika, Diana; Han, Jiali; Fang, Shenying; Lee, Jeffrey E.; Wei, Qingyi; Lathrop, G. Mark; Gillanders, Eliz ...; Brown, Kevin M.; Goldstein, Alisa ...; Kanetsky, Peter ...; Mann, Graham J.; MacGregor, Stuar ...; Elder, David E.; Amos, Christophe ...; Hayward, Nichola ...; Gruis, Nelleke A ...; Demenais, Floren ...; Bishop, Julia A. ...; Bishop, D. Timot ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Surgery

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cancer and Oncol ...

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