Hereditary Breast Cancer: Genetic and Molecular Studies

遗传性乳腺癌：遗传和分子研究

基本信息

批准号：
7364155
负责人：
HODA A ANTON-CULVER
金额：
$ 61.36万
依托单位：
UNIVERSITY OF CALIFORNIA-IRVINE
依托单位国家：
美国
项目类别：
财政年份：
1994
资助国家：
美国
起止时间：
1994-02-04 至 2011-02-28
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7364155
关键词：
Acrylamide Acrylamides Admixture Affect Age Age at Menarche Alcohol consumption Alcohol dehydrogenase Algorithms BRCA1 gene BRCA2 gene Base Excision Repairs Biological Assay Breast Cancer Genetics Breast Cancer Risk Factor COMT gene CYP17A1 gene CYP19A1 gene CYP1A1 gene CYP1B1 gene CYP2D6 gene CYP2E1 gene Cancer Patient Candidate Disease Gene Carcinogen Metabolism Carcinogens Case Study Case-Control Studies Catechol O-Methyltransferase Cell Cycle Checkpoint Genes Clinical Data Clinical Pathology Complex Consent Contraceptive Usage DNA DNA Repair Gene DNA Repair Pathway Data Databases Diet Dietary Factors Dietary Fats Disease Environment Environmental Exposure Environmental Impact Environmental Risk Factor Estrogen Receptors Estrogen Replacement Therapy Evaluation Exposure to Failure Family Family history of Family member Fiber First Degree Relative Folate Food Frequencies Genes Genetic Genetic Databases Genetic Variation Genome Genotype Goals Haplotypes Hereditary Breast Carcinoma Hormonal Hormonal Risk Factor Hormone replacement therapy Hormones Individual Intake Integration Host Factors Link Maps Measures Menopausal Status Menopause Metabolic Pathway Metabolism Methodology Methods Modification Molecular Mutation Nucleotide Excision Repair Nucleotides Numbers Oral Ovarian Steroid Hormone Oxidoreductase Pathway interactions Penetrance Phase Physiological Platelet Factor 4 Play Polymerase Population Population Control Population Genetics Potato Prevalence Probability Process Published Comment Purpose Quality Control Radiation Relative (related person)Reporting Reproductive History Research Design Resources Risk Risk Factors Role Sampling Series Significance Level Site Smoke Smoking History Source Stratification Testing Update Validation Variant Weight base breast cancer family cancer risk case control cohort cost design disorder risk follow-up gene environment interaction genetic variant innovation kindred malignant breast neoplasm novel strategies parity proband repaired response steroid hormone metabolism theories tumor

项目摘要

DESCRIPTION (provided by applicant): It is recognized that both genetic and environmental factors play a role in breast cancer. The genetic component has been verified by the discovery of the high-penetrance genes BRCA1 and BRCA2. Hormonal factors, radiation, diet, oral contraceptive use and estrogen replacement therapy are among some of environmental factors believed to influence breast cancer risk. Population genetic theory predicts that a large proportion of the prevalence of complex diseases will be due to genetic variation and environmental risk factors that are common in the population. Low penetrance genetic variants may not have a large influence on individual risk, however when common in the population, will be a large component of the overall attributable risk for the disease. Until recently, the interaction between environmental risk factors and genes in determining breast cancer risk has not been explored. We are now at a point where we can use the existing resource of population-based breast cancer families to characterize common genetic variants in a series of candidate breast cancer modifier genes and study the relationship between this variation, environmental risk factors and breast cancer risk. This innovative approach uses our fully characterized resource. The Specific Aims of this new phase are as follows: 1) We will, in an initial discovery phase, identify common sequence variants in a panel of candidate genes selected because of their potential function in a specific pathway known to be associated with increased risk of breast cancer or physiological changes associated with a known risk factor for breast cancer; 2) To study the relationship between a series of candidate genes and breast cancer risk; 3) To study the effects on breast cancer risk due to the environmental risk factors and the interaction between the candidate genes and environmental risk factors; 4) To validate and fine map any genetic factors which are found to influence breast cancer risk in the analyses described in Specific Aims 2 and 3.

描述（由申请人提供）：人们认识到遗传和环境因素在乳腺癌中都发挥着作用。高外显率基因 BRCA1 和 BRCA2 的发现证实了其遗传成分。激素因素、辐射、饮食、口服避孕药的使用和雌激素替代疗法等被认为会影响乳腺癌风险的一些环境因素。群体遗传理论预测，复杂疾病的流行很大一部分是由于群体中常见的遗传变异和环境危险因素造成的。低外显率遗传变异可能不会对个体风险产生很大影响，但是当在人群中常见时，将成为该疾病总体归因风险的重要组成部分。直到最近，环境风险因素和基因在确定乳腺癌风险方面的相互作用尚未得到探索。我们现在可以利用基于人群的乳腺癌家族的现有资源来表征一系列候选乳腺癌修饰基因中的常见遗传变异，并研究这种变异、环境风险因素和乳腺癌风险之间的关系。这种创新方法利用了我们完全特征化的资源。这一新阶段的具体目标如下： 1) 在最初的发现阶段，我们将识别一组候选基因中的常见序列变异，因为它们在已知与增加的风险相关的特定途径中具有潜在功能。乳腺癌或与已知乳腺癌危险因素相关的生理变化； 2）研究一系列候选基因与乳腺癌风险的关系； 3）研究环境危险因素对乳腺癌风险的影响以及候选基因与环境危险因素的相互作用； 4) 验证并精细绘制在具体目标 2 和 3 中描述的分析中发现的影响乳腺癌风险的任何遗传因素。

项目成果

期刊论文数量（31）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Alcohol consumption and survival after a breast cancer diagnosis: a literature-based meta-analysis and collaborative analysis of data for 29,239 cases.

DOI：
10.1158/1055-9965.epi-13-0901
发表时间：
2014-06
期刊：
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
影响因子：
0
作者：
Ali AM;Schmidt MK;Bolla MK;Wang Q;Gago-Dominguez M;Castelao JE;Carracedo A;Garzón VM;Bojesen SE;Nordestgaard BG;Flyger H;Chang-Claude J;Vrieling A;Rudolph A;Seibold P;Nevanlinna H;Muranen TA;Aaltonen K;Blomqvist C;Matsuo K;Ito H;Iwata H;Horio A;John EM;Sherman M;Lissowska J;Figueroa J;Garcia-Closas M;Anton-Culver H;Shah M;Hopper JL;Trichopoulou A;Bueno-de-Mesquita B;Krogh V;Weiderpass E;Andersson A;Clavel-Chapelon F;Dossus L;Fagherazzi G;Peeters PH;Olsen A;Wishart GC;Easton DF;Borgquist S;Overvad K;Barricarte A;González CA;Sánchez MJ;Amiano P;Riboli E;Key T;Pharoah PD
通讯作者：
Pharoah PD

Effect of reproductive factors on stage, grade and hormone receptor status in early-onset breast cancer.

DOI：
10.1186/bcr1198
发表时间：
2005
期刊：
Breast cancer research : BCR
影响因子：
0
作者：
Largent JA;Ziogas A;Anton-Culver H
通讯作者：
Anton-Culver H

Cancer risk estimates for family members of a population-based family registry for breast and ovarian cancer.

DOI：
发表时间：
2000
期刊：
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
影响因子：
0
作者：
A. Ziogas;M. Gildea;P. Cohen;Deborah Bringman;T. Taylor;D. Seminara;D. Barker;G. Casey;R. Haile
通讯作者：
A. Ziogas;M. Gildea;P. Cohen;Deborah Bringman;T. Taylor;D. Seminara;D. Barker;G. Casey;R. Haile

Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium.

DOI：
10.1158/1055-9965.epi-08-0745
发表时间：
2009-05
期刊：
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
影响因子：
0
作者：
Gaudet MM;Milne RL;Cox A;Camp NJ;Goode EL;Humphreys MK;Dunning AM;Morrison J;Giles GG;Severi G;Baglietto L;English DR;Couch FJ;Olson JE;Wang X;Chang-Claude J;Flesch-Janys D;Abbas S;Salazar R;Mannermaa A;Kataja V;Kosma VM;Lindblom A;Margolin S;Heikkinen T;Kämpjärvi K;Aaltonen K;Nevanlinna H;Bogdanova N;Coinac I;Schürmann P;Dörk T;Bartram CR;Schmutzler RK;Tchatchou S;Burwinkel B;Brauch H;Torres D;Hamann U;Justenhoven C;Ribas G;Arias JI;Benitez J;Bojesen SE;Nordestgaard BG;Flyger HL;Peto J;Fletcher O;Johnson N;Dos Santos Silva I;Fasching PA;Beckmann MW;Strick R;Ekici AB;Broeks A;Schmidt MK;van Leeuwen FE;Van't Veer LJ;Southey MC;Hopper JL;Apicella C;Haiman CA;Henderson BE;Le Marchand L;Kolonel LN;Kristensen V;Grenaker Alnaes G;Hunter DJ;Kraft P;Cox DG;Hankinson SE;Seynaeve C;Vreeswijk MP;Tollenaar RA;Devilee P;Chanock S;Lissowska J;Brinton L;Peplonska B;Czene K;Hall P;Li Y;Liu J;Balasubramanian S;Rafii S;Reed MW;Pooley KA;Conroy D;Baynes C;Kang D;Yoo KY;Noh DY;Ahn SH;Shen CY;Wang HC;Yu JC;Wu PE;Anton-Culver H;Ziogoas A;Egan K;Newcomb P;Titus-Ernstoff L;Trentham Dietz A;Sigurdson AJ;Alexander BH;Bhatti P;Allen-Brady K;Cannon-Albright LA;Wong J;Australian Ovarian Cancer Study Group;Chenevix-Trench G;Spurdle AB;Beesley J;Pharoah PD;Easton DF;Garcia-Closas M;Breast Cancer Association Consortium
通讯作者：
Breast Cancer Association Consortium

Allelic imbalance on chromosome 17p13 in borderline (low malignant potential) epithelial ovarian tumors.

交界性（低度恶性潜能）上皮性卵巢肿瘤中染色体 17p13 上的等位基因不平衡。