Polygenic Risk Scores in Breast Cancer

被引：0

作者：

Mina, Lida A. ^{[1
]}

Arun, Banu ^{[2
]}

机构：

[1] Banner MD Anderson Canc Ctr, Gilbert, AZ USA

[2] Univ Texas MD Anderson Canc Ctr, Breast Med Oncol Clin Canc Genet, Houston, TX 77030 USA

来源：

CURRENT BREAST CANCER REPORTS | 2019年 / 11卷 / 03期

关键词：

Breast cancer; Single nucleotide polymorphism; Polygenic risk score; Risk models; Genetic testing; Tyrer-Cuzick; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; PREDICTION; BRCA2; WOMEN; GENE;

D O I：

10.1007/s12609-019-00320-8

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Purpose of Review Breast cancer is a complex disease that is fueled by genetic as well as non-genetic factors. As data risk estimates become better, stratifying a woman's risk for breast cancer can lead to better prevention strategies. The purpose of this review is to introduce the polygenic risk score (PRS) and shed light on its clinical applications as well as shortcomings in the field of breast cancer prevention. Recent Findings A PRS combines relevant single-nucleotide polypeptides (SNPs) and generates an estimated risk of a specific cancer. It has the ability of questioning the whole genome and incorporating the added benefit of an individualized assessment. The PRS has become a part of the risk assessment evaluation without being officially approved. The benefit of the PRS can be substantial and holds the promise of improved breast cancer prevention. However, more studies are needed to justify its routine use in our clinics.

引用

页码：117 / 122

页数：6

共 44 条

[1] Polygenic Risk Score Improves Prostate Cancer Risk Prediction: Results from the Stockholm-1 Cohort Study [J].

Aly, Markus ;

Wiklund, Fredrik ;

Xu, Jianfeng ;

Isaacs, William B. ;

Eklund, Martin ;

D'Amato, Mauro ;

Adolfsson, Jan ;

Gronberg, Henrik .

EUROPEAN UROLOGY, 2011, 60 (01) :21-28

[2]

[Anonymous], NAT GENET

[3]

[Anonymous], BREAST CANC RES TREA

[4]

[Anonymous], NAT GENET

[5] Familial breast-ovarian cancer syndromes: BRCA1 and BRCA2 [J].

Berchuck, A ;

Carney, M ;

Lancaster, JM ;

Marks, J ;

Futreal, AP .

CLINICAL OBSTETRICS AND GYNECOLOGY, 1998, 41 (01) :157-166

[6] Developing and evaluating polygenic risk prediction models for stratified disease prevention [J].

Chatterjee, Nilanjan ;

Shi, Jianxin ;

Garcia-Closas, Montserrat .

NATURE REVIEWS GENETICS, 2016, 17 (07) :392-406

[7] Value and Limitations of Existing Scores for the Assessment of Cardiovascular Risk A Review for Clinicians [J].

Cooney, Marie Therese ;

Dudina, Alexandra L. ;

Graham, Ian M. .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2009, 54 (14) :1209-1227

[8] Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer [J].

Couch, Fergus J. ;

Shimelis, Hermela ;

Hu, Chunling ;

Hart, Steven N. ;

Polley, Eric C. ;

Na, Jie ;

Hallberg, Emily ;

Moore, Raymond ;

Thomas, Abigail ;

Lilyquist, Jenna ;

Feng, Bingjian ;

McFarland, Rachel ;

Pesaran, Tina ;

Huether, Robert ;

LaDuca, Holly ;

Chao, Elizabeth C. ;

Goldgar, David E. ;

Dolinsky, Jill S. .

JAMA ONCOLOGY, 2017, 3 (09) :1190-1196

[9] Chemotherapy Costs and 21-Gene Recurrence Score Genomic Testing Among Medicare Beneficiaries With Early-Stage Breast Cancer, 2005 to 2011 [J].

Dinan, Michaels A. ;

Wilson, Lauren E. ;

Reed, Shelby D. .

JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK, 2019, 17 (03) :245-254

[10] Genome-wide association study identifies novel breast cancer susceptibility loci [J].

Easton, Douglas F. ;

Pooley, Karen A. ;

Dunning, Alison M. ;

Pharoah, Paul D. P. ;

Thompson, Deborah ;

Ballinger, Dennis G. ;

Struewing, Jeffery P. ;

Morrison, Jonathan ;

Field, Helen ;

Luben, Robert ;

Wareham, Nicholas ;

Ahmed, Shahana ;

Healey, Catherine S. ;

Bowman, Richard ;

Meyer, Kerstin B. ;

Haiman, Christopher A. ;

Kolonel, Laurence K. ;

Henderson, Brian E. ;

Le Marchand, Loic ;

Brennan, Paul ;

Sangrajrang, Suleeporn ;

Gaborieau, Valerie ;

Odefrey, Fabrice ;

Shen, Chen-Yang ;

Wu, Pei-Ei ;

Wang, Hui-Chun ;

Eccles, Diana ;

Evans, D. Gareth ;

Peto, Julian ;

Fletcher, Olivia ;

Johnson, Nichola ;

Seal, Sheila ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Chenevix-Trench, Georgia ;

Bojesen, Stig E. ;

Nordestgaard, Borge G. ;

Axelsson, Christen K. ;

Garcia-Closas, Montserrat ;

Brinton, Louise ;

Chanock, Stephen ;

Lissowska, Jolanta ;

Peplonska, Beata ;

Nevanlinna, Heli ;

Fagerholm, Rainer ;

Eerola, Hannaleena ;

Kang, Daehee ;

Yoo, Keun-Young ;

Noh, Dong-Young ;

Ahn, Sei-Hyun .

NATURE, 2007, 447 (7148) :1087-U7

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