A functionally significant SNP in TP53 and breast cancer risk in African-American women

Maureen E Murphy; Song Liu; Song Yao; Dezheng Huo; Qin Liu; Sonia C Dolfi; Kim M Hirshfield; Chi-Chen Hong; Qiang Hu; Andrew F Olshan; Temidayo O Ogundiran; Clement Adebamowo; Susan M Domchek; Katherine L Nathanson; Barbara Nemesure; Stefan Ambs; William J Blot; Ye Feng; Esther M John; Leslie Bernstein; Wei Zheng; Jennifer J Hu; Regina G Ziegler; Sarah Nyante; Sue A Ingles; Michael F Press; Sandra L Deming; Jorge L Rodriguez-Gil; Christopher A Haiman; Olufunmilayo I Olopade; Kathryn L Lunetta; Julie R Palmer; Christine B Ambrosone

doi:10.1038/s41523-017-0007-9

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A functionally significant SNP in TP53 and breast cancer risk in African-American women

Journal article

Open access

A functionally significant SNP in TP53 and breast cancer risk in African-American women

Maureen E Murphy, Song Liu, Song Yao, Dezheng Huo, Qin Liu, Sonia C Dolfi, Kim M Hirshfield, Chi-Chen Hong, Qiang Hu, Andrew F Olshan, …

NPJ breast cancer, Vol.3(1), pp.5-4

2017

DOI: https://doi.org/10.1038/s41523-017-0007-9

PMCID: PMC5445618

PMID: 28649645

Abstract

A coding region polymorphism exists in the gene (Pro47Ser; rs1800371) in individuals of African descent, which reduces p53 tumor suppressor function in a mouse model. It has been unclear whether this functionally significant polymorphism alters cancer risk in humans. This analysis included 6907 women with breast cancer and 7644 controls from the AMBER, ROOT, and AABC consortia. We used multivariable logistic regression to estimate associations between the TP53 Pro47Ser allele and overall breast cancer risk. Because polymorphisms in tend to be associated with cancer risk in pre-menopausal women, we also limited our analyses to this population in the AMBER and ROOT consortia, where menopausal status was known, and conducted a fixed effects meta-analysis. In an analysis of all women in the AMBER, ROOT, and AABC consortia, we found no evidence for association of the Pro47Ser variant with breast cancer risk. However, when we restricted our analysis to only pre-menopausal women from the AMBER and ROOT consortia, there was a per allele odds ratio of 1.72 (95% confidence interval 1.08-2.76; -value = 0.023). Although the Pro47Ser variant was not associated with overall breast cancer risk, it may increase risk among pre-menopausal women of African ancestry. Following up on more studies in human populations may better elucidate the role of this variant in breast cancer etiology. However, because of the low frequency of the polymorphism in women of African ancestry, its impact at a population level may be minimal.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.25 Molecular & Cell Biology - Cancer, Autophagy & Apoptosis; 1.25.656 P53
Web Of Science research areas: Oncology
ESI research areas: Clinical Medicine

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Title: A functionally significant SNP in TP53 and breast cancer risk in African-American women
Creators: Maureen E Murphy - Program in Molecular and Cellular Oncogenesis, The Wistar Institute, Philadelphia, PA 19104 USA
Song Liu - Department of Biostatistics and Bioinformatics, Roswell Park Cancer Institute, Buffalo, NY 14263 USA
Song Yao - Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY 14263 USA
Dezheng Huo - Department of Public Health Sciences, University of Chicago, Chicago, , IL 60637 USA
Qin Liu - Program in Molecular and Cellular Oncogenesis, The Wistar Institute, Philadelphia, PA 19104 USA
Sonia C Dolfi - Department of Medicine, Rutgers Robert Wood Johnson Medical School/Rutgers Cancer Institute of New Jersey, New Brunswick, , NJ 08903 USA
Kim M Hirshfield - Department of Medicine, Rutgers Robert Wood Johnson Medical School/Rutgers Cancer Institute of New Jersey, New Brunswick, , NJ 08903 USA
Chi-Chen Hong - Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY 14263 USA
Qiang Hu - Department of Biostatistics and Bioinformatics, Roswell Park Cancer Institute, Buffalo, NY 14263 USA
Andrew F Olshan - University of North Carolina Lineberger Comprehensive Cancer Center, Chapel Hill, , NC 27514 USA
Temidayo O Ogundiran - Department of Surgery, College of Medicine, University of Ibadan, Ibadan, Nigeria
Clement Adebamowo - Department of Epidemiology & Public Health, University of Maryland School of Medicine, Baltimore, MD 21201 USA
Susan M Domchek - Department of Medicine, Abramson Cancer Center, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, , PA 19104 USA
Katherine L Nathanson - Department of Medicine, Abramson Cancer Center, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, , PA 19104 USA
Barbara Nemesure - Department of Family, Population and Preventive Medicine, Stony Brook University, Stony Brook, NY 11794 USA
Stefan Ambs - Laboratory of Human Carcinogenesis, National Cancer Institute, Bethesda, MD 20892 USA
William J Blot - Vanderbilt University Medical Center, Nashville, , TN 37232 USA
Ye Feng - Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90089 USA
Esther M John - Stanford University School of Medicine and Stanford Cancer Institute, Stanford, CA 94305 USA
Leslie Bernstein - Division of Cancer Etiology, Department of Population Sciences, Beckman Research Institute, City of Hope, Duarte, CA 91010 USA
Wei Zheng - Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232 USA
Jennifer J Hu - Sylvester Comprehensive Cancer Center and Department of Public Health Sciences, University of Miami Miller School of Medicine, Miami, FL 33136 USA
Regina G Ziegler - Epidemiology and Biostatistics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892 USA
Sarah Nyante - Department of Epidemiology, Gillings School of Global Public Health and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27514 USA
Sue A Ingles - Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90089 USA
Michael F Press - Department of Pathology, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90089 USA
Sandra L Deming - Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN 37232 USA
Jorge L Rodriguez-Gil - Sylvester Comprehensive Cancer Center and Department of Public Health Sciences, University of Miami Miller School of Medicine, Miami, FL 33136 USA
Christopher A Haiman - Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA 90089 USA
Olufunmilayo I Olopade - Department of Medicine, University of Chicago, Chicago, , IL 60637 USA
Kathryn L Lunetta - Department of Biostatistics, Boston University, Boston, , MA 02215 USA
Julie R Palmer - Slone Epidemiology Center at Boston University, Boston, , MA 02215 USA
Christine B Ambrosone - Department of Medicine, Rutgers Robert Wood Johnson Medical School/Rutgers Cancer Institute of New Jersey, New Brunswick, , NJ 08903 USA
Publication Details: NPJ breast cancer, Vol.3(1), pp.5-4
Publisher: United States
Grant note: D43 TW009106 / FIC NIH HHS R01 CA102184 / NCI NIH HHS P30 CA010815 / NCI NIH HHS T32 GM008692 / NIGMS NIH HHS P30 ES010126 / NIEHS NIH HHS R01 CA201430 / NCI NIH HHS
Academic Unit: Miller School of Medicine; UMMG Department of Public Health Sciences Research
Language: English
Resource Type: Journal article
PMID: 28649645
PMCID: PMC5445618
Record Identifier: 991031562880202976