New common variants affecting susceptibility to basal cell carcinoma

被引：251

作者：

Stacey, Simon N. ^{[1
]}

Sulem, Patrick ^{[1
]}

Masson, Gisli ^{[1
]}

Gudjonsson, Sigurjon A. ^{[1
]}

Thorleifsson, Gudmar ^{[1
]}

Jakobsdottir, Margret ^{[1
]}

Sigurdsson, Asgeir ^{[1
]}

Gudbjartsson, Daniel F. ^{[1
]}

Sigurgeirsson, Bardur ^{[2
]}

Benediktsdottir, Kristrun R. ^{[3
]}

Thorisdottir, Kristin ^{[2
,4
]}

Ragnarsson, Rafn ^{[4
]}

Scherer, Dominique ^{[5
]}

Hemminki, Kari ^{[5
]}

Rudnai, Peter ^{[6
]}

Gurzau, Eugene ^{[7
]}

Koppova, Kvetoslava ^{[8
]}

Botella-Estrada, Rafael ^{[9
]}

Soriano, Virtudes ^{[10
]}

Juberias, Pablo ^{[11
]}

Saez, Berta ^{[12
]}

Gilaberte, Yolanda ^{[13
]}

Fuentelsaz, Victoria ^{[11
]}

Corredera, Cristina ^{[11
]}

Grasa, Matilde ^{[11
]}

Hoiom, Veronica ^{[14
]}

Lindblom, Annika ^{[15
]}

Bonenkamp, Johannes J. ^{[16
]}

van Rossum, Michelle M. ^{[17
]}

Aben, Katja K. H. ^{[18
,19
]}

de Vries, Esther ^{[20
]}

Santinami, Mario ^{[21
]}

Di Mauro, Maria G. ^{[22
]}

Maurichi, Andrea ^{[21
]}

Wendt, Judith ^{[23
]}

Hochleitner, Pia ^{[23
]}

Pehamberger, Hubert ^{[23
]}

Gudmundsson, Julius ^{[1
]}

Magnusdottir, Droplaug N. ^{[1
]}

Gretarsdottir, Solveig ^{[1
]}

Holm, Hilma ^{[1
]}

Steinthorsdottir, Valgerdur ^{[1
]}

Frigge, Michael L. ^{[1
]}

Blondal, Thorarinn ^{[1
]}

Saemundsdottir, Jona ^{[1
]}

Bjarnason, Hjordis ^{[1
]}

Kristjansson, Kristleifur ^{[1
]}

Bjornsdottir, Gyda ^{[1
]}

Okamoto, Ichiro ^{[23
]}

Rivoltini, Licia ^{[24
]}

机构：

[1] deCODE Genet, Reykjavik, Iceland

[2] Univ Iceland, Landspitali, Dept Dermatol, Reykjavik, Iceland

[3] Univ Iceland, Landspitali, Dept Pathol, Reykjavik, Iceland

[4] Univ Iceland, Landspitali, Dept Plast Surg, Reykjavik, Iceland

[5] German Canc Res Ctr, Div Mol Genet Epidemiol, D-6900 Heidelberg, Germany

[6] Natl Inst Environm Hlth, Budapest, Hungary

[7] Ctr Environm Hlth, Cluj Napoca, Ro Cluj Napoca, Romania

[8] State Hlth Inst, Banska Bystrica, Slovakia

[9] Inst Valenciano Oncol, Dept Dermatol, Valencia, Spain

[10] Inst Valenciano Oncol, Dept Oncol, Valencia, Spain

[11] Univ Hosp, Div Dermatol, Zaragoza, Spain

[12] Nanotechnol Inst Aragon, Hlth Sci Inst, Zaragoza, Spain

[13] San Jorge Gen Hosp, Div Dermatol, Huesca, Spain

[14] Karolinska Univ Hosp Solna, Karolinska Inst, Canc Ctr Karolinska, Dept Oncol Pathol, Stockholm, Sweden

[15] Karolinska Inst, Dept Mol Med, Stockholm, Sweden

[16] Radboud Univ Nijmegen, Dept Surg, Med Ctr, NL-6525 ED Nijmegen, Netherlands

[17] Radboud Univ Nijmegen, Dept Dermatol, Med Ctr, NL-6525 ED Nijmegen, Netherlands

[18] Radboud Univ Nijmegen, Dept Epidemiol Biostat & Hlth Technol Assessment, Med Ctr, NL-6525 ED Nijmegen, Netherlands

[19] Comprehens Canc Ctr IKO, Nijmegen, Netherlands

[20] Erasmus MC, Dept Publ Hlth, Rotterdam, Netherlands

[21] Fdn IRCCS, Ist Nazl Tumori, Melanoma & Sarcoma Surg Unit, Milan, Italy

[22] Fdn IRCCS, Ist Nazl Tumori, Dept Immunohematol & Transfus Med, Milan, Italy

[23] Med Univ Vienna, Div Gen Dermatol, Dept Dermatol, Vienna, Austria

[24] Fdn IRCCS, Ist Nazl Tumori, Immunotherapy Human Tumours Unit, Milan, Italy

[25] Fdn IRCCS, Ist Nazl Tumori, Melanoma Genet Grp, Milan, Italy

[26] Radboud Univ Nijmegen, Med Ctr, Dept Urol, NL-6525 ED Nijmegen, Netherlands

[27] Univ Hosp, Div Med Oncol, Zaragoza, Spain

[28] Dartmouth Med Sch, Epidemiol & Biostat Sect, Dept Community & Family Med, Lebanon, NH USA

[29] Dartmouth Med Sch, Norris Cotton Canc Ctr, Lebanon, NH USA

[30] Univ Minnesota, Mason Canc Ctr, Div Epidemiol & Community Hlth, Minneapolis, MN USA

来源：

NATURE GENETICS | 2009年 / 41卷 / 08期

关键词：

GENOME-WIDE ASSOCIATION; EPIDERMOLYSIS-BULLOSA SIMPLEX; GENETIC-DETERMINANTS; PIGMENTATION; MELANOMA; FAMILY; CANCER; KERATINS; INK4/ARF; LOCUS;

D O I：

10.1038/ng.412

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC)(1), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 x 10(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 x 10(-9)), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 x 10(-10)). The effect of rs157935[T] is dependent on the parental origin of the risk allele. None of these variants were found to be associated with melanoma or fair-pigmentation traits. A melanoma-and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma.

引用

页码：909 / U69

页数：8

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