Fine scale mapping of the breast cancer 16q12 locus

被引：57

作者：

Udler, Miriam S. ^{[1
,3
,4
]}

Ahmed, Shahana ^{[2
]}

Healey, Catherine S. ^{[4
]}

Meyer, Kerstin ^{[5
]}

Struewing, Jeffrey ^{[2
]}

Maranian, Melanie ^{[3
]}

Kwon, Erika M. ^{[5
]}

Zhang, Jinghui ^{[2
]}

Tyrer, Jonathan ^{[3
]}

Karlins, Eric ^{[2
]}

Platte, Radka ^{[2
]}

Kalmyrzaev, Bolot ^{[2
]}

Dicks, Ed ^{[2
]}

Field, Helen ^{[2
]}

Maia, Ana-Teresa ^{[4
]}

Prathalingam, Radhika ^{[4
]}

Teschendorff, Andrew ^{[4
,6
]}

McArthur, Stewart ^{[4
]}

Doody, David R. ^{[7
]}

Luben, Robert ^{[1
]}

Caldas, Carlos ^{[4
]}

Bernstein, Leslie ^{[8
]}

Kolonel, Laurence K. ^{[9
]}

Henderson, Brian E. ^{[10
]}

Wu, Anna H. ^{[10
]}

Le Marchand, Loic ^{[9
]}

Ursin, Giske ^{[10
,11
]}

Press, Michael F. ^{[12
]}

Lindblom, Annika ^{[13
]}

Margolin, Sara ^{[13
]}

Shen, Chen-Yang ^{[14
]}

Yang, Show-Lin ^{[14
]}

Hsiung, Chia-Ni ^{[14
]}

Kang, Daehee ^{[15
]}

Yoo, Keun-Young ^{[15
]}

Noh, Dong-Young ^{[15
]}

Ahn, Sei-Hyun ^{[16
]}

Malone, Kathleen E. ^{[7
]}

Haiman, Christopher A. ^{[10
]}

Pharoah, Paul D. ^{[2
]}

Ponder, Bruce A. J. ^{[2
,4
]}

Ostrander, Elaine A. ^{[3
]}

Easton, Douglas F. ^{[1
]}

Dunning, Alison M. ^{[2
]}

机构：

[1] Univ Cambridge, Dept Publ Hlth & Primary Care, Cambridge, England

[2] Univ Cambridge, Dept Oncol, Cambridge, England

[3] NHGRI, Canc Genet Branch, NIH, Bethesda, MD 20892 USA

[4] Li Ka Shing Ctr, CRUK Cambridge Res Inst, Cambridge CB2 0RE, England

[5] NCI, Lab Populat Genet, NIH, Bethesda, MD 20892 USA

[6] UCL, Med Genom Grp, UCL Canc Inst, London, England

[7] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98104 USA

[8] City Hope Natl Med Ctr, Dept Populat Sci, Duarte, CA 91010 USA

[9] Univ Hawaii, Canc Res Ctr, Program Epidemiol, Honolulu, HI 96813 USA

[10] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

[11] Univ Oslo, Dept Nutr, Oslo, Norway

[12] Univ So Calif, Keck Sch Med, Dept Pathol, Kenneth Norris Jr Comprehens Canc Ctr, Los Angeles, CA 90033 USA

[13] Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden

[14] Acad Sinica, Inst Biomed Sci, Taipei, Taiwan

[15] Seoul Natl Univ, Coll Med, Seoul, South Korea

[16] Univ Ulsan, Seoul, South Korea

来源：

HUMAN MOLECULAR GENETICS | 2010年 / 19卷 / 12期

关键词：

GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY; TRANSCRIPTION; VARIANTS; AMERICAN; GENES;

D O I：

10.1093/hmg/ddq122

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Recent genome-wide association studies have identified a breast cancer susceptibility locus on 16q12 with an unknown biological basis. We used a set of single nucleotide polymorphism (SNP) markers to generate a fine-scale map and narrowed the region of association to a 133 kb DNA segment containing the largely uncharacterized hypothetical gene LOC643714, a short intergenic region and the 5' end of TOX3. Re-sequencing this segment in European subjects identified 293 common polymorphisms, including a set of 26 highly correlated candidate causal variants. By evaluation of these SNPs in five breast cancer case-control studies involving more than 23 000 subjects from populations of European and Southeast Asian ancestry, all but 14 variants could be excluded at odds of <1:100. Most of the remaining variants lie in the intergenic region, which exhibits evolutionary conservation and open chromatin conformation, consistent with a regulatory function. African-American case-control studies exhibit a different pattern of association suggestive of an additional causative variant.

引用

页码：2507 / 2515

页数：9

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