Skip to main content
An official website of the United States government
Grant Details

Grant Number: 1R03CA130065-01 Interpret this number
Primary Investigator: West, Dee
Organization: Cancer Prevention Instit Of California
Project Title: Study of Genetic Mutation Carriage in Chinese Populations with Breast Cancer
Fiscal Year: 2007


Abstract

DESCRIPTION (provided by applicant): The goal of this application is to complete a pilot study to determine the feasibility of conducting a large, family-based, genetic-epidemiologic study of breast cancer in Hong Kong, China. In the full-scale study, we plan to obtain pedigree information on all eligible population-based cases (probands) of breast cancer, blood samples and risk information on cases and selected family members, tumor blocks and samples of fresh frozen tissue from probands and tumor blocks from relatives with breast or ovarian cancer. These data will be used to estimate BRCA1 and BRCA2 mutation carriage, to improve models to estimate mutation carriage in different ethnic groups, and to perform case-control studies of breast cancer risk factors, with an emphasis on inherited and candidate genes in selected metabolic pathways, including gene-gene and gene-environment interactions. This application is seeking support for a pilot study to provide information to finalize a study design and to demonstrate the feasibility of each element of the larger study. Components of the pilot study are modeled after the NCI-funded Breast Cancer Family Registry (Breast-CFR). Using these protocols and data instruments, with as few modifications as possible, will allow comparisons of data from the Breast- CFR and this proposed study. The specific aims of this study are to: 1) collaborate with eight hospitals in Hong Kong to prospectively identify and recruit 48 cases (probands) of breast cancer (6 from each hospital) and from each proband obtain fresh frozen tissue of the cancer and surrounding tissue, paraffin-embedded tumor blocks, blood samples, risk factor information, and a pedigree extended to second-degree relatives; 2) recruit 2 relatives of each proband (N=96), obtain blood samples and risk factor information, and tumor blocks and pathology reports for those diagnosed with breast or ovarian cancer; 3) recruit 24 "control probands" (3 per hospital) with no history of breast cancer and 2 family members per proband (N=48) and collect the same information as in the cases families; and 4) estimate response rates to all parts of the study, ability to collect family history information, determine the number of relatives that may be included in the study, determine the prevalence and distribution of risk factors of interest, identify the most efficient study procedures, identify all costs, and evaluate the feasibility of including controls in the large study.



Publications

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.
Authors: Barnes D.R. , Tyrer J.P. , Dennis J. , Leslie G. , Bolla M.K. , Lush M. , Aeilts A.M. , Aittomäki K. , Andrieu N. , Andrulis I.L. , et al. .
Source: Medrxiv : The Preprint Server For Health Sciences, 2024-03-04 00:00:00.0; , .
EPub date: 2024-03-04 00:00:00.0.
PMID: 38496424
Related Citations

Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival.
Authors: Lopes Cardozo J.M.N. , Andrulis I.L. , Bojesen S.E. , Dörk T. , Eccles D.M. , Fasching P.A. , Hooning M.J. , Keeman R. , Nevanlinna H. , Rutgers E.J.T. , et al. .
Source: Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology, 2023-04-01 00:00:00.0; 41(10), p. 1849-1863.
EPub date: 2023-01-23 00:00:00.0.
PMID: 36689693
Related Citations

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.
Authors: Mueller S.H. , Lai A.G. , Valkovskaya M. , Michailidou K. , Bolla M.K. , Wang Q. , Dennis J. , Lush M. , Abu-Ful Z. , Ahearn T.U. , et al. .
Source: Genome Medicine, 2023-01-26 00:00:00.0; 15(1), p. 7.
EPub date: 2023-01-26 00:00:00.0.
PMID: 36703164
Related Citations

Relevance of the MHC region for breast cancer susceptibility in Asians.
Authors: Ho P.J. , Khng A.J. , Tan B.K. , Tan E.Y. , Tan S.M. , Tan V.K.M. , Lim G.H. , Aronson K.J. , Chan T.L. , Choi J.Y. , et al. .
Source: Breast Cancer (tokyo, Japan), 2022 Sep; 29(5), p. 869-879.
EPub date: 2022-05-11 00:00:00.0.
PMID: 35543923
Related Citations

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
Authors: Li S. , Silvestri V. , Leslie G. , Rebbeck T.R. , Neuhausen S.L. , Hopper J.L. , Nielsen H.R. , Lee A. , Yang X. , McGuffog L. , et al. .
Source: Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology, 2022-05-10 00:00:00.0; 40(14), p. 1529-1541.
EPub date: 2022-01-25 00:00:00.0.
PMID: 35077220
Related Citations

Polygenic risk scores for prediction of breast cancer risk in Asian populations.
Authors: Ho W.K. , Tai M.C. , Dennis J. , Shu X. , Li J. , Ho P.J. , Millwood I.Y. , Lin K. , Jee Y.H. , Lee S.H. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2022 Mar; 24(3), p. 586-600.
EPub date: 2021-12-15 00:00:00.0.
PMID: 34906514
Related Citations

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
Authors: Patel V.L. , Busch E.L. , Friebel T.M. , Cronin A. , Leslie G. , McGuffog L. , Adlard J. , Agata S. , Agnarsson B.A. , Ahmed M. , et al. .
Source: Cancer Research, 2020-02-01 00:00:00.0; 80(3), p. 624-638.
EPub date: 2019-11-13 00:00:00.0.
PMID: 31723001
Related Citations

Two truncating variants in FANCC and breast cancer risk.
Authors: Dörk T. , Peterlongo P. , Mannermaa A. , Bolla M.K. , Wang Q. , Dennis J. , Ahearn T. , Andrulis I.L. , Anton-Culver H. , Arndt V. , et al. .
Source: Scientific Reports, 2019-08-29 00:00:00.0; 9(1), p. 12524.
EPub date: 2019-08-29 00:00:00.0.
PMID: 31467304
Related Citations

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
Authors: Qian F. , Rookus M.A. , Leslie G. , Risch H.A. , Greene M.H. , Aalfs C.M. , Adank M.A. , Adlard J. , Agnarsson B.A. , Ahmed M. , et al. .
Source: British Journal Of Cancer, 2019 07; 121(2), p. 180-192.
EPub date: 2019-06-19 00:00:00.0.
PMID: 31213659
Related Citations

BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or Ancestry.
Authors: Friebel T.M. , Andrulis I.L. , Balmaña J. , Blanco A.M. , Couch F.J. , Daly M.B. , Domchek S.M. , Easton D.F. , Foulkes W.D. , Ganz P.A. , et al. .
Source: Human Mutation, 2019-05-21 00:00:00.0; , .
EPub date: 2019-05-21 00:00:00.0.
PMID: 31112363
Related Citations

The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium.
Authors: Ugai T. , Milne R.L. , Ito H. , Aronson K.J. , Bolla M.K. , Chan T. , Chan C.W. , Choi J.Y. , Conroy D.M. , Dennis J. , et al. .
Source: Molecular Genetics & Genomic Medicine, 2019-05-07 00:00:00.0; , p. e707.
EPub date: 2019-05-07 00:00:00.0.
PMID: 31066241
Related Citations

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Authors: Milne R.L. , Kuchenbaecker K.B. , Michailidou K. , Beesley J. , Kar S. , Lindström S. , Hui S. , Lemaçon A. , Soucy P. , Dennis J. , et al. .
Source: Nature Genetics, 2017 Dec; 49(12), p. 1767-1778.
EPub date: 2017-10-23 00:00:00.0.
PMID: 29058716
Related Citations

Comprehensive Spectrum Of Brca1 And Brca2 Deleterious Mutations In Breast Cancer In Asian Countries
Authors: Kwong A. , Shin V.Y. , Ho J.C. , Kang E. , Nakamura S. , Teo S.H. , Lee A.S. , Sng J.H. , Ginsburg O.M. , Kurian A.W. , et al. .
Source: Journal Of Medical Genetics, 2016 Jan; 53(1), p. 15-23.
PMID: 26187060
Related Citations

Novel Brca1 And Brca2 Genomic Rearrangements In Southern Chinese Breast/ovarian Cancer Patients
Authors: Kwong A. , Ng E.K. , Law F.B. , Wong H.N. , Wa A. , Wong C.L. , Kurian A.W. , West D.W. , Ford J.M. , Ma E.S. .
Source: Breast Cancer Research And Treatment, 2012 Dec; 136(3), p. 931-3.
PMID: 23099436
Related Citations

Breast Cancer Risk Factors Differ Between Asian And White Women With Brca1/2 Mutations
Authors: de Bruin M.A. , Kwong A. , Goldstein B.A. , Lipson J.A. , Ikeda D.M. , McPherson L. , Sharma B. , Kardashian A. , Schackmann E. , Kingham K.E. , et al. .
Source: Familial Cancer, 2012 Sep; 11(3), p. 429-39.
PMID: 22638769
Related Citations

Identification Of Brca1/2 Founder Mutations In Southern Chinese Breast Cancer Patients Using Gene Sequencing And High Resolution Dna Melting Analysis
Authors: Kwong A. , Ng E.K. , Wong C.L. , Law F.B. , Au T. , Wong H.N. , Kurian A.W. , West D.W. , Ford J.M. , Ma E.S. .
Source: Plos One, 2012; 7(9), p. e43994.
PMID: 22970155
Related Citations

High-resolution Melting Analysis For Rapid Screening Of Brca2 Founder Mutations In Southern Chinese Breast Cancer Patients
Authors: Kwong A. , Ng E.K. , Law F.B. , Wong L.P. , To M.Y. , Cheung M.T. , Wong H.N. , Chan V.W. , Kurian A. , West D.W. , et al. .
Source: Breast Cancer Research And Treatment, 2010 Jul; 122(2), p. 605-7.
PMID: 20396944
Related Citations

A Brca2 Founder Mutation And Seven Novel Deleterious Brca Mutations In Southern Chinese Women With Breast And Ovarian Cancer
Authors: Kwong A. , Wong L.P. , Wong H.N. , Law F.B. , Ng E.K. , Tang Y.H. , Chan W.K. , Ho L.S. , Kwan K.H. , Poon M. , et al. .
Source: Breast Cancer Research And Treatment, 2009 Oct; 117(3), p. 683-6.
PMID: 19353265
Related Citations



Back to Top