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Grant Details

Grant Number: 5R03CA128080-02 Interpret this number
Primary Investigator: Han, Jiali
Organization: Brigham And Women'S Hospital
Project Title: Genetic Variants in Pigmentation Genes and Skin Cancer Risk
Fiscal Year: 2008
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Abstract

DESCRIPTION (provided by applicant): Substantial biologic evidence indicates that the pigmentation pathway plays a critical role in protecting against skin cancer. However, the importance of common inherited variants in the pigmentation pathway and their interactions with constitutional host factors and UV exposure history in causing skin cancer is largely unknown. Sparse data exist except for the melanocortin 1 receptor (MC1R) genetic variants. We propose to examine in detail the genetic variants in the pigmentation pathway with the risks of melanoma, squamous cell carcinoma (SCC), and basal cell carcinoma (BCC) simultaneously in a nested case- control study within the Nurses Health Study (219 melanoma cases, 286 SCC cases, 300 BCC cases, and 874 matched controls). This innovative work will move this field forward, by evaluating common variants in the pigmentation pathway using complementary approaches, i.e. to evaluate putative functional SNPs and to choose tag- SNPs to test for associations of unknown common functional variants with skin cancer risk, along with exploratory pathway analyses. In addition, we will also assess the interactions between genetic variants in these genes and constitutional host factors and UV exposure history on skin cancer risk. This proposal will take advantage of the research opportunities nested within the existing well-characterized cohort, including cohort characteristics, quality of design, high follow-up rate, large sample size, rigor in prospective host risk factor assessment, and high response rate of retrospective questionnaires. Our study will also take advantage of the previously confirmed cases of the three types of skin cancers, stored blood and DNA samples, as well as previously collected information on host risk factors and UV exposure history. This research will contribute to the scientific basis for identifying high-risk individuals for skin cancer and providing individualized risk management strategies.

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Publications

A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus.
Authors: Han J, Qureshi AA, Nan H, Zhang J, Song Y, Guo Q, Hunter DJ
Source: Cancer Res, 2011 Mar 1;71(5), p. 1533-9.
EPub date: 2011 Jan 26.
PMID: 21270109
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ASIP genetic variants and the number of non-melanoma skin cancers.
Authors: Lin W, Qureshi AA, Kraft P, Nan H, Guo Q, Hu FB, Jensen MK, Han J
Source: Cancer Causes Control, 2011 Mar;22(3), p. 495-501.
EPub date: 2011 Jan 9.
PMID: 21221757
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Genetic variants in the 53BP1 gene and skin cancer risk.
Authors: He C, Nan H, Qureshi AA, Han J
Source: J Invest Dermatol, 2010 Dec;130(12), p. 2850-3.
EPub date: 2010 Aug 5.
PMID: 20686496
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Melanoma susceptibility variants on chromosome 20q11.22 are associated with pigmentary traits and the risk of nonmelanoma skin cancer.
Authors: Nan H, Qureshi AA, Han J
Source: Br J Dermatol, 2010 Feb 1;162(2), p. 461-3.
EPub date: 2009 Nov 30.
PMID: 19995372
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Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
Authors: Nan H, Kraft P, Hunter DJ, Han J
Source: Int J Cancer, 2009 Aug 15;125(4), p. 909-17.
PMID: 19384953
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Genome-wide association study of tanning phenotype in a population of European ancestry.
Authors: Nan H, Kraft P, Qureshi AA, Guo Q, Chen C, Hankinson SE, Hu FB, Thomas G, Hoover RN, Chanock S, Hunter DJ, Han J
Source: J Invest Dermatol, 2009 Sep;129(9), p. 2250-7.
EPub date: 2009 Apr 2.
PMID: 19340012
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A functional SNP in the MDM2 promoter, pigmentary phenotypes, and risk of skin cancer.
Authors: Nan H, Qureshi AA, Hunter DJ, Han J
Source: Cancer Causes Control, 2009 Mar;20(2), p. 171-9.
EPub date: 2008 Sep 24.
PMID: 18814047
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Interaction between p53 codon 72 polymorphism and melanocortin 1 receptor variants on suntan response and cutaneous melanoma risk.
Authors: Nan H, Qureshi AA, Hunter DJ, Han J
Source: Br J Dermatol, 2008 Aug;159(2), p. 314-21.
EPub date: 2008 May 28.
PMID: 18510673
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A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
Authors: Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, Hankinson SE, Hu FB, Duffy DL, Zhao ZZ, Martin NG, Montgomery GW, Hayward NK, Thomas G, Hoover RN, Chanock S, Hunter DJ
Source: PLoS Genet, 2008 May 16;4(5), p. e1000074.
EPub date: 2008 May 16.
PMID: 18483556
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