Development and validation of genome-wide polygenic risk scores for predicting breast cancer incidence in Japanese females: a population-based case-cohort study.

Female Humans Breast Neoplasms / epidemiology Cohort Studies East Asian People / genetics Genetic Predisposition to Disease Genome-Wide Association Study Incidence Longitudinal Studies Multifactorial Inheritance Polymorphism, Single Nucleotide Risk Factors Japan / epidemiology Health Status Indicators Risk Assessment
Breast cancer East-Asian Genome-wide association study Japanese Polygenic risk score

Journal

Breast cancer research and treatment
ISSN: 1573-7217
Titre abrégé: Breast Cancer Res Treat
Pays: Netherlands
ID NLM: 8111104

Informations de publication

Date de publication:
Feb 2023
Historique:
received: 28 09 2022
accepted: 08 12 2022
pubmed: 21 12 2022
medline: 1 2 2023
entrez: 20 12 2022
Statut: ppublish

Résumé

This study aimed to develop an ancestry-specific polygenic risk scores (PRSs) for the prediction of breast cancer events in Japanese females and validate it in a longitudinal cohort study. Using publicly available summary statistics of female breast cancer genome-wide association study (GWAS) of Japanese and European ancestries, we, respectively, developed 31 candidate genome-wide PRSs using pruning and thresholding (P + T) and LDpred methods with varying parameters. Among the candidate PRS models, the best model was selected using a case-cohort dataset (63 breast cancer cases and 2213 sub-cohorts of Japanese females during a median follow-up of 11.9 years) according to the maximal predictive ability by Harrell's C-statistics. The best-performing PRS for each derivation GWAS was evaluated in another independent case-cohort dataset (260 breast cancer cases and 7845 sub-cohorts of Japanese females during a median follow-up of 16.9 years). For the best PRS model involving 46,861 single nucleotide polymorphisms (SNPs; P + T method with P This study developed a breast cancer PRS for Japanese females and demonstrated the usefulness of the PRS for breast cancer risk stratification.

Identifiants

DOI: 10.1007/s10549-022-06843-6 PMID: 36538246
pubmed: 36538246
doi: 10.1007/s10549-022-06843-6
pii: 10.1007/s10549-022-06843-6
doi:

Types de publication

Journal Article Validation Study

Langues

eng

Sous-ensembles de citation

IM

Pagination

661-671

Subventions

Organisme : National Cancer Center Research and Development Fund
ID : 23-A-31 [toku]
Organisme : National Cancer Center Research and Development Fund
ID : 26-A-2
Organisme : National Cancer Center Research and Development Fund
ID : 29-A-4
Organisme : National Cancer Center Research and Development Fund
ID : 2020-J-4
Organisme : Grant-in-Aid for Cancer Research from the Ministry of Health, Labour, and Welfare of Japan
ID : 19shi-2
Organisme : Practical Research for Innovative Cancer Control
ID : JP16ck0106095
Organisme : Practical Research for Innovative Cancer Control
ID : JP19ck0106266
Organisme : Practical Research for Innovative Cancer Control
ID : JP22ck0106551

Informations de copyright

© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

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Auteurs

Hiroyuki Ohbe (H)

Department of Clinical Epidemiology and Health Economics, School of Public Health, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.

Tsuyoshi Hachiya (T)

Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Iwate Medical University, 1-1-1 Idaidori, Yahaba, Shiwa, Iwate, 028-3694, Japan. thachiya@iwate-med.ac.jp.
ORCID: 0000-0002-5274-3266

Taiki Yamaji (T)

Division of Epidemiology, National Cancer Center Institute for Cancer Control, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan. tyamaji@ncc.go.jp.
ORCID: 0000-0002-4799-8782

Shiori Nakano (S)

Division of Epidemiology, National Cancer Center Institute for Cancer Control, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.

Yoshihisa Miyamoto (Y)

Division of Cohort Research, National Cancer Center Institute for Cancer Control, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.

Yoichi Sutoh (Y)

Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Iwate Medical University, 1-1-1 Idaidori, Yahaba, Shiwa, Iwate, 028-3694, Japan.

Yayoi Otsuka-Yamasaki (Y)

Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Iwate Medical University, 1-1-1 Idaidori, Yahaba, Shiwa, Iwate, 028-3694, Japan.

Atsushi Shimizu (A)

Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Iwate Medical University, 1-1-1 Idaidori, Yahaba, Shiwa, Iwate, 028-3694, Japan.

Hideo Yasunaga (H)

Department of Clinical Epidemiology and Health Economics, School of Public Health, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.

Norie Sawada (N)

Division of Cohort Research, National Cancer Center Institute for Cancer Control, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.

Manami Inoue (M)

Division of Cohort Research, National Cancer Center Institute for Cancer Control, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.
Division of Prevention, National Cancer Center Institute for Cancer Control, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.

Shoichiro Tsugane (S)

Division of Cohort Research, National Cancer Center Institute for Cancer Control, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.
National Institute of Health and Nutrition, National Institutes of Biomedical Innovation, Health and Nutrition, Tokyo, 162-8636, Japan.

Motoki Iwasaki (M)

Division of Epidemiology, National Cancer Center Institute for Cancer Control, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.
Division of Cohort Research, National Cancer Center Institute for Cancer Control, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.

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