European polygenic risk score for prediction of breast cancer shows similar performance in Asian women

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Polygenic risk scores (PRS) have been shown to predict breast cancer risk in European women, but their utility in Asian women is unclear. Here we evaluate the best performing PRSs for European-ancestry women using data from 17,262 breast cancer cases and 17,695 controls of Asian ancestry from 13 case-control studies, and 10,255 Chinese women from a prospective cohort (413 incident breast cancers). Compared to women in the middle quintile of the risk distribution, women in the highest 1% of PRS distribution have a ~2.7-fold risk and women in the lowest 1% of PRS distribution has ~0.4-fold risk of developing breast cancer. There is no evidence of heterogeneity in PRS performance in Chinese, Malay and Indian women. A PRS developed for European-ancestry women is also predictive of breast cancer risk in Asian women and can help in developing risk-stratified screening programmes in Asia.

Abstract

Polygenic risk scores predict the likelihood that an individual will develop a certain cancer, however these are often specific for a given population. Here, the authors show that a risk score developed to assess the risk of breast cancer in European women can also predict risk in Asian populations.

Related collections

Most cited references 18

Record: found
Abstract: found
Article: not found

Screening for breast cancer: U.S. Preventive Services Task Force recommendation statement.

(2009)

Update of the 2002 U.S. Preventive Services Task Force (USPSTF) recommendation statement on screening for breast cancer in the general population. The USPSTF examined the evidence on the efficacy of 5 screening modalities in reducing mortality from breast cancer: film mammography, clinical breast examination, breast self-examination, digital mammography, and magnetic resonance imaging in order to update the 2002 recommendation. To accomplish this update, the USPSTF commissioned 2 studies: 1) a targeted systematic evidence review of 6 selected questions relating to benefits and harms of screening, and 2) a decision analysis that used population modeling techniques to compare the expected health outcomes and resource requirements of starting and ending mammography screening at different ages and using annual versus biennial screening intervals. The USPSTF recommends against routine screening mammography in women aged 40 to 49 years. The decision to start regular, biennial screening mammography before the age of 50 years should be an individual one and take into account patient context, including the patient's values regarding specific benefits and harms. (Grade C recommendation) The USPSTF recommends biennial screening mammography for women between the ages of 50 and 74 years. (Grade B recommendation) The USPSTF concludes that the current evidence is insufficient to assess the additional benefits and harms of screening mammography in women 75 years or older. (I statement) The USPSTF concludes that the current evidence is insufficient to assess the additional benefits and harms of clinical breast examination beyond screening mammography in women 40 years or older. (I statement) The USPSTF recommends against clinicians teaching women how to perform breast self-examination. (Grade D recommendation) The USPSTF concludes that the current evidence is insufficient to assess additional benefits and harms of either digital mammography or magnetic resonance imaging instead of film mammography as screening modalities for breast cancer. (I statement).

0 comments Cited 285 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Screening for breast cancer with mammography

Peter C. Gøtzsche, Karsten Juhl Jørgensen (2013)

A variety of estimates of the benefits and harms of mammographic screening for breast cancer have been published and national policies vary. To assess the effect of screening for breast cancer with mammography on mortality and morbidity. We searched PubMed (22 November 2012) and the World Health Organization's International Clinical Trials Registry Platform (22 November 2012). Randomised trials comparing mammographic screening with no mammographic screening. Two authors independently extracted data. Study authors were contacted for additional information. Eight eligible trials were identified. We excluded a trial because the randomisation had failed to produce comparable groups.The eligible trials included 600,000 women in the analyses in the age range 39 to 74 years. Three trials with adequate randomisation did not show a statistically significant reduction in breast cancer mortality at 13 years (relative risk (RR) 0.90, 95% confidence interval (CI) 0.79 to 1.02); four trials with suboptimal randomisation showed a significant reduction in breast cancer mortality with an RR of 0.75 (95% CI 0.67 to 0.83). The RR for all seven trials combined was 0.81 (95% CI 0.74 to 0.87). We found that breast cancer mortality was an unreliable outcome that was biased in favour of screening, mainly because of differential misclassification of cause of death. The trials with adequate randomisation did not find an effect of screening on total cancer mortality, including breast cancer, after 10 years (RR 1.02, 95% CI 0.95 to 1.10) or on all-cause mortality after 13 years (RR 0.99, 95% CI 0.95 to 1.03).Total numbers of lumpectomies and mastectomies were significantly larger in the screened groups (RR 1.31, 95% CI 1.22 to 1.42), as were number of mastectomies (RR 1.20, 95% CI 1.08 to 1.32). The use of radiotherapy was similarly increased whereas there was no difference in the use of chemotherapy (data available in only two trials). If we assume that screening reduces breast cancer mortality by 15% and that overdiagnosis and overtreatment is at 30%, it means that for every 2000 women invited for screening throughout 10 years, one will avoid dying of breast cancer and 10 healthy women, who would not have been diagnosed if there had not been screening, will be treated unnecessarily. Furthermore, more than 200 women will experience important psychological distress including anxiety and uncertainty for years because of false positive findings. To help ensure that the women are fully informed before they decide whether or not to attend screening, we have written an evidence-based leaflet for lay people that is available in several languages on www.cochrane.dk. Because of substantial advances in treatment and greater breast cancer awareness since the trials were carried out, it is likely that the absolute effect of screening today is smaller than in the trials. Recent observational studies show more overdiagnosis than in the trials and very little or no reduction in the incidence of advanced cancers with screening.

0 comments Cited 222 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Singapore Chinese Health Study: development, validation, and calibration of the quantitative food frequency questionnaire.

Jae H T Lee, David Park, Emma V Low … (2000)

This report describes the development and validation/calibration of a structured food frequency questionnaire for use in a large-scale cohort study of diet and health in Chinese men and women aged 45-74 years in Singapore, the development of a food composition database for analysis of the dietary data, and the results of the dietary validation/calibration study. The present calibration study comparing estimated intakes from 24-hour recalls with those from the food frequency questionnaires revealed correlations of 0.24-0.79 for energy and nutrients among the Singapore Chinese, which are comparable to the correlation coefficients reported in calibration studies of other populations. We also report on the nutritional profiles of Singapore Chinese on the basis of results of 1,880 24-hour dietary recalls conducted on 1,022 (425 men and 597 women) cohort subjects. Comparisons with age-adjusted corresponding values for US whites and blacks show distinct differences in dietary intakes between the Singapore and US populations. The Singapore cohort will be followed prospectively to identify dietary associations with cancer risk and other health outcomes.

0 comments Cited 140 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Contributors

Weang-Kee Ho:

ORCID: http://orcid.org/0000-0002-8269-7344

weangkee.ho@nottingham.edu.my

Soo-Hwang Teo:

ORCID: http://orcid.org/0000-0002-0444-590X

soohwang.teo@cancerresearch.my

Journal

Journal ID (nlm-ta): Nat Commun

Journal ID (iso-abbrev): Nat Commun

Title: Nature Communications

Publisher: Nature Publishing Group UK (London )

ISSN (Electronic): 2041-1723

Publication date (Electronic): 31 July 2020

Publication date PMC-release: 31 July 2020

Publication date Collection: 2020

Volume: 11

Electronic Location Identifier: 3833

Affiliations

[1 ]GRID grid.440435.2, School of Mathematical Sciences, Faculty of Science and Engineering, , University of Nottingham Malaysia, ; Jalan Broga, Semenyih, 43500 Selangor Malaysia

[2 ]GRID grid.507182.9, Cancer Research Malaysia, ; 1 Jalan SS12/1A, Subang Jaya, 47500 Selangor Malaysia

[3 ]ISNI 0000000121885934, GRID grid.5335.0, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, , University of Cambridge, ; CB1 8RN, Cambridge, UK

[4 ]ISNI 0000 0004 0620 715X, GRID grid.418377.e, Human Genetics, Genome Institute of Singapore, ; 60 Biopolis St, 138672 Singapore, Singapore

[5 ]ISNI 0000 0004 0621 9599, GRID grid.412106.0, Department of Surgery, , National University Hospital and NUHS, ; 1E Kent Ridge Road, 119228 Singapore, Singapore

[6 ]ISNI 0000000121885934, GRID grid.5335.0, Strangeways Research Laboratory, , University of Cambridge, ; 2 Worts’ Causeway, Cambridge, UK

[7 ]ISNI 0000 0004 0609 0940, GRID grid.417705.0, Biostatistics Unit, The Cyprus Institute of Neurology & Genetics, ; 6 Iroon Avenue, 2371 Ayios, Dometios Cyprus

[8 ]ISNI 0000 0004 0609 0940, GRID grid.417705.0, Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology & Genetics, ; 6 Iroon Avenue, 2371 Ayios, Dometios Cyprus

[9 ]ISNI 0000 0004 0470 5905, GRID grid.31501.36, Department of Preventive Medicine, , Seoul National University College of Medicine, ; 103 Daehak-Ro, Jongno-Gu, 03080 Seoul, Korea

[10 ]ISNI 0000 0004 0470 5905, GRID grid.31501.36, Department of Biomedical Sciences, , Seoul National University Graduate School, ; 103 Daehak-Ro, Jongno-Gu, 03080, Seoul, Korea

[11 ]ISNI 0000 0004 0470 5905, GRID grid.31501.36, Cancer Research Institute, , Seoul National University, ; 103 Daehak-Ro, Jongno-Gu, Seoul, 03080 Korea

[12 ]ISNI 0000 0001 2308 5949, GRID grid.10347.31, Department of Surgery, Faculty of Medicine, , University of Malaya, Jalan Universiti, ; 50630 Kuala Lumpur, Malaysia

[13 ]ISNI 0000 0001 2264 7217, GRID grid.152326.1, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, , Vanderbilt University School of Medicine, ; 1161 21st Ave S # D3300, Nashville, TN 37232 USA

[14 ]Department of Surgery, Daerim Saint Mary’s Hospital, 657 Siheung-Daero, Daerim-Dong, Yeongdeungpo-Gu, 07442 Seoul, Korea

[15 ]ISNI 0000 0004 0633 7958, GRID grid.482251.8, Institute of Biomedical Sciences, Academia Sinica, ; 115128, Section 2, Academia Road, Taipei, Taiwan

[16 ]ISNI 0000 0001 0083 6092, GRID grid.254145.3, School of Public Health, , China Medical University, ; Taichung, Taiwan

[17 ]ISNI 0000 0004 0638 9360, GRID grid.278244.f, Department of Surgery, , Tri-Service General Hospital, ; Taipei, 114 Taiwan

[18 ]GRID grid.240988.f, Department of General Surgery, , Tan Tock Seng Hospital, ; Singapore, 308433 Singapore

[19 ]ISNI 0000000121662407, GRID grid.5379.8, Division of Population Health, Health Services Research and Primary Care, School of Health Sciences, , The University of Manchester, ; Oxford Road, M13 9PL, Manchester, UK

[20 ]ISNI 0000 0001 2156 6853, GRID grid.42505.36, Department of Preventive Medicine, Keck School of Medicine, , University of Southern California, ; 1975 Zonal Ave, Los Angeles, 90033 CA USA

[21 ]ISNI 0000 0001 0722 8444, GRID grid.410800.d, Division of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, ; 1-1 Kanokoden, Chikusa-Ku, 464-8681 Nagoya, Japan

[22 ]ISNI 0000 0001 0943 978X, GRID grid.27476.30, Division of Cancer Epidemiology, Nagoya University Graduate School of Medicine, ; 65 Tsurumai-Cho, Showa-Ku, 466-8550 Nagoya, Japan

[23 ]ISNI 0000 0001 2180 6431, GRID grid.4280.e, Department of Surgery, Yong Loo Lin School of Medicine, , National University of Singapore, ; 117597 Singapore, Singapore

[24 ]ISNI 0000 0004 0621 9599, GRID grid.412106.0, National University Hospital, National University Health System, ; Singapore, Singapore

[25 ]ISNI 0000 0004 0620 9745, GRID grid.410724.4, Division of Medical Oncology, National Cancer Centre Singapore, ; 11 Hospital Drive, 169610 Singapore, Singapore

[26 ]ISNI 0000 0004 0385 0924, GRID grid.428397.3, Oncology Academic Clinical Program, Duke-NUS Graduate Medical School, ; 8 College Road, 169857 Singapore, Singapore

[27 ]ISNI 0000 0004 0620 9745, GRID grid.410724.4, Division of Surgical Oncology, National Cancer Centre, ; Singapore, Singapore

[28 ]ISNI 0000 0000 8958 3388, GRID grid.414963.d, Breast Department, , KK Women’s and Children’s Hospital, ; Singapore, 100 Bukit Timah Road, 229899 Singapore

[29 ]Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Centre, 18A Kung Ngam Village Road, Happy Valley, Hong Kong

[30 ]ISNI 0000000121742757, GRID grid.194645.b, Department of Surgery, , The University of Hong Kong, ; 102 Pokfulam Road, Pok Fu Lam, Hong Kong

[31 ]Department of Surgery, Hong Kong Sanatorium and Hospital, 2 Village Rd, Happy Valley, Hong Kong

[32 ]Department of Pathology, Hong Kong Sanatorium and Hospital, 2 Village Rd, Happy Valley, Hong Kong

[33 ]ISNI 0000 0004 0469 9373, GRID grid.413815.a, General Surgery, Changi General Hospital, ; Singapore, Singapore

[34 ]ISNI 0000000419368956, GRID grid.168010.e, Department of Medicine, Division of Oncology, Stanford Cancer Institute, , Stanford University School of Medicine, ; 780 Welch Road, Suite CJ250C, Stanford, 94304 CA USA

[35 ]ISNI 0000000419368956, GRID grid.168010.e, Department of Health Research and Policy—Epidemiology, , Stanford University School of Medicine, ; 259 Campus Drive, Stanford, 94305 CA USA

[36 ]ISNI 0000 0004 0385 0924, GRID grid.428397.3, Health Services and Systems Research, Duke-NUS Medical School, Stanford University School of Medicine, ; 8 College Road, 169857 Singapore, Singapore

[37 ]ISNI 0000 0001 2180 6431, GRID grid.4280.e, Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, ; 12 Science Drive 2, #10-01, 117549 Singapore, Singapore

[38 ]ISNI 0000 0001 2168 5385, GRID grid.272242.3, Division of Epidemiology, Center for Public Health Sciences, National Cancer Center, ; 5-1-1 Tsukiji, Chuo-Ku, 104-0045 Tokyo, Japan

[39 ]ISNI 0000 0000 9486 5048, GRID grid.163555.1, Department of General Surgery, , Singapore General Hospital, ; Singapore, Singapore

[40 ]Population Oncology, BC Cancer, 675 West 10th Avenue, Vancouver, V5Z 1G1 BC, Canada

[41 ]ISNI 0000 0001 2288 9830, GRID grid.17091.3e, School of Population and Public Health, , University of British Columbia, ; 2329 West Mall Vancouver, V6T 1Z4 BC, Canada

[42 ]ISNI 0000 0004 1936 8331, GRID grid.410356.5, Department of Public Health Sciences, and Cancer Research Institute, , Queen’s University, ; 10 Stuart Street, Kingston, K7L 3N6 ON Canada

[43 ]ISNI 0000 0001 2308 5949, GRID grid.10347.31, Biomedical Imaging Department, Faculty of Medicine, , University of Malaya, ; Kuala Lumpur, Malaysia

[44 ]ISNI 0000000121885934, GRID grid.5335.0, Centre for Cancer Genetic Epidemiology, Department of Oncology, , University of Cambridge, ; 2 Worts’ Causeway, CB1 8RN, Cambridge, UK

[45 ]ISNI 0000 0000 9471 1794, GRID grid.411081.d, Genomics Center, , CHU de Québec-Université Laval Research 2705 Blvd Laurier Québec (Québec) G1V 4G2, ; Quebec, Canada

[46 ]ISNI 0000 0001 2180 6431, GRID grid.4280.e, Departments of Medicine, Yong Loo Lin School of Medicine, , National University of Singapore, ; Singapore, Singapore

[47 ]ISNI 0000 0004 0647 0388, GRID grid.415921.a, Sime Darby Medical Centre, ; 1 Jalan SS12/1A, Subang Jaya, 47500 Selangor Malaysia

Author information

Weang-Kee Ho http://orcid.org/0000-0002-8269-7344

Min-Min Tan http://orcid.org/0000-0002-9123-3445

Jingmei Li http://orcid.org/0000-0001-8587-7511

Peh-Joo Ho http://orcid.org/0000-0002-3017-4023

Joe Dennis http://orcid.org/0000-0003-4591-1214

Jonathan P. Tyrer http://orcid.org/0000-0003-3724-4757

Sue K. Park http://orcid.org/0000-0001-5002-9707

Kenneth Muir http://orcid.org/0000-0001-6429-988X

Daniel O. Stram http://orcid.org/0000-0001-7099-9022

Keitaro Matsuo http://orcid.org/0000-0003-1761-6314

Hidemi Ito http://orcid.org/0000-0002-8023-4581

Ching Wan Chan http://orcid.org/0000-0002-9250-1296

Geok Hoon Lim http://orcid.org/0000-0002-5296-3437

Allison W. Kurian http://orcid.org/0000-0002-6175-9470

Chiea Chuen Khor http://orcid.org/0000-0002-1128-4729

Kartini Rahmat http://orcid.org/0000-0001-8513-9076

Xueling Sim http://orcid.org/0000-0002-1233-7642

Paul D. P. Pharoah http://orcid.org/0000-0001-8494-732X

Alison M. Dunning http://orcid.org/0000-0001-6651-7166

Jacques Simard http://orcid.org/0000-0001-6906-3390

Cheng-Har Yip http://orcid.org/0000-0002-6507-9675

Douglas F. Easton http://orcid.org/0000-0003-2444-3247

Soo-Hwang Teo http://orcid.org/0000-0002-0444-590X

Article

Publisher ID: 17680

DOI: 10.1038/s41467-020-17680-w

PMC ID: 7395776

PubMed ID: 32737321

SO-VID: 36eb4b70-9a9a-4f20-be80-de5ee559613e

License:

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

History

Date received : 19 November 2019

Date accepted : 15 July 2020

Custom metadata

ScienceOpen disciplines: Uncategorized

Keywords: cancer,breast cancer,cancer genetics,risk factors

Data availability:

ScienceOpen disciplines: Uncategorized

Keywords: cancer, breast cancer, cancer genetics, risk factors

Comments

Comment on this article

scite_

Cited by 48

See all cited by

Most referenced authors 1,599

See all reference authors

- Version 1

European polygenic risk score for prediction of breast cancer shows similar performance in Asian women

Read this article at

Abstract

Abstract

Related collections

Karger: Oncology

Most cited references 18

Screening for breast cancer: U.S. Preventive Services Task Force recommendation statement.

Screening for breast cancer with mammography

Singapore Chinese Health Study: development, validation, and calibration of the quantitative food frequency questionnaire.

Author and article information

Contributors

Journal

Affiliations

Author information

Article

History

Categories

Custom metadata

Comments

Comment on this article

Similar content 252

Cited by 48

Most referenced authors 1,599