Breast Cancer Family Registry Cohort

乳腺癌家族登记队列

• 批准号: 10398170
• 负责人: Irene Andrulis
• 金额: $ 177.58万
• 依托单位: COLUMBIA UNIVERSITY HEALTH SCIENCES
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-09-12 至 2023-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10398170
• 关键词: Address; Affect; Age; Australia; BRCA1 gene; BRCA2 gene; Behavioral; Big Data; Blood; Blood specimen; Breast; Breast Cancer Risk Factor; Canada; Cancer Etiology; Cell Line; Cessation of life; Characteristics; Chemoprevention; Clinical; Collaborations; Collection; Communities; Complement; Complex; DNA; Data; Data Collection; Data Linkages; Data Set; Databases; Death Records; Development; Diagnosis; Early identification; Enrollment; Environmental Exposure; Etiology; Event; Family; Family member; Family-Based Registry; Gene Mutation; Generations; Genetic Predisposition to Disease; Genetic Risk; Genomics; Genotype; Germ-Line Mutation; Goals; Health behavior; Hereditary Breast Carcinoma; Hormones; Incidence; Individual; Infrastructure; International; Intervention; Investigation; Knowledge; Length; Life; Life Cycle Stages; Life Style; Magnetic Resonance Imaging; Malignant Neoplasms; Mammary Gland Parenchyma; Mammographic Density; Mammography; Measurement; Measures; Menstrual cycle; Methods; Modeling; Molecular; Newly Diagnosed; Operative Surgical Procedures; Optics; Outcome; Participant; Pathologic; Physical activity; Plasma; Positioning Attribute; Predisposition; Pregnancy; Prevention; Prevention Research; Primary Prevention; Questionnaires; Radiation; Recording of previous events; Registries; Reproductive History; Research; Resources; Risk; Risk Assessment; Risk Factors; Role; Scientist; Second Primary Cancers; Secondary Prevention; Site; Spectrum Analysis; Techniques; Technology; Testing; Tissue Banks; Tissue Sample; Translational Research; Tumor Tissue; Update; Woman; Women' s Health; aged; base; breast cancer diagnosis; breast cancer family registry; cancer epidemiology; cancer risk; clinical risk; cohort; data repository; design; digital; digital imaging; early detection biomarkers; emerging adult; ethnic diversity; follow-up; genetic discrimination; genetic variant; genomic data; improved; intervention program; malignant breast neoplasm; member; men; mobile application; mortality; multiple omics; new technology; novel; novel strategies; prospective; psychosocial; public health research; racial diversity; recruit; risk perception; risk prediction model; screening; screening guidelines; survivorship; targeted treatment; tertiary prevention; whole genome; young adult; young woman

The Breast Cancer Family Registry (BCFR) Cohort is a large and well-characterized international cohort of multi-generational families that has been created for interdisciplinary collaborative research. Established in 1995 at six sites across the US, Canada and Australia, we recruited and followed 40,029 individuals (33,037 women and 6,992 men) from 15,056 families across the full spectrum of familial risk and/or genetic predisposition. Through recruitment of multiple family members across generations, the BCFR Cohort is unique from other cohorts of unrelated individuals, and has a wide range of absolute breast cancer risk, which enables investigation of factors that modify breast cancer susceptibility and outcomes after diagnosis across the spectrum of risk. The BCFR Cohort is also unique for its comprehensive biospecimen resources, including cell lines for many participants complementing standard stored DNA, plasma and tissue samples. We have followed individuals who were unaffected (n=27,671) and affected (n=12,358) with breast cancer at baseline for up to 25 years (average length of follow-up = 15.2 and 16.1 years, respectively) and prospectively ascertained 879 incident breast cancers and 863 second breast events, respectively. The overarching goal of this application is to enrich the BCFR Cohort by building upon and enhancing the core infrastructure using long-term prospective data collection and measurement of key markers to address novel hypotheses in cancer etiology, survival and survivorship. We aim to answer questions on the role of life course accumulation of risk, critical windows of exposure, and the factors underling the increase in breast cancer incidence in young women. We propose to continue a systematic and coordinated approach across all six sites over the next five years to: 1) enhance the BCFR Cohort by enrolling young women aged 18–39 years who are relatives of enrolled family members and collecting detailed data on menstrual cycles, hormone exposure and physical activity using mobile app technology; 2) retain and follow currently enrolled members of the BCFR Cohort through another wave of follow-up questionnaires, and linkages to cancer and death registries; 3) create a big data repository of multiple “omics” datasets (e.g., whole genome, serial digital mammograms); and 4) expand the biospecimen resources, including collection of tissue and repeat blood samples. These activities will include collection and updating of detailed risk factor, biospecimen, clinical, and outcome data through novel approaches and technology (e.g., mobile app technologies, optical spectroscopy) and big data approaches. With the addition of these components, we will continue to provide the research community an important and unique family cohort to address cutting-edge research questions of clinical importance on cancer susceptibility, survival and survivorship (e.g., risk assessment, identification of early detection markers, knowledge and perception of risk). Through this resource, we envision a large platform for translational research that will provide rigorous evidence on complex questions related to primary, secondary and tertiary prevention efforts.

乳腺癌家族登记(BCFR)队列是一个庞大的、具有良好特征的国际队列。 为跨学科协作研究而创建的多代家庭。成立于 1995年，在美国、加拿大和澳大利亚的六个地点，我们招募并跟踪了40029人(33,037人 女性和6992名男性)，来自15,056个家庭，涵盖所有家庭风险和/或遗传 性情。通过招募几代人的多个家庭成员，BCFR队列是 与其他无关个体不同，并具有广泛的绝对乳腺癌风险，这 能够调查影响乳腺癌易感性和诊断后预后的因素 风险的范围。BCFR Cohort还因其全面的生物样品资源而独一无二，包括 许多参与者的细胞系补充标准存储的DNA、血浆和组织样本。我们有 跟踪了基线时未受影响的(27,671人)和受影响的(12,358人)乳腺癌患者 最长25年(平均随访时间分别为15.2年和16.1年)和前瞻性 共确定乳腺癌发病879例，二次乳腺癌863例。的首要目标是 此应用程序旨在通过以下方式构建和增强核心基础设施，从而丰富BCFR团队 针对癌症新假说的长期前瞻性数据收集和关键标记物测量 病因学、存活率和存活率。我们的目标是回答有关生命过程中风险积累的作用的问题， 暴露的关键窗口，以及导致年轻人乳腺癌发病率增加的因素 女人。我们建议在未来五年内继续在所有六个地点采取系统和协调的方法 年：1)通过招募18-39岁的年轻女性亲属来加强BCFR队列 登记家庭成员并收集月经周期、激素暴露和体格检查的详细数据 使用移动应用程序技术的活动；2)保留和跟踪BCFR队列的当前注册成员 通过另一波后续调查问卷，以及与癌症和死亡登记的联系；3)创建一个大的 多个“组学”数据集的数据库(例如，全基因组、系列数字乳房X光照片)；以及4)扩展 生物标本资源，包括组织采集和重复血样采集。这些活动将 包括收集和更新详细风险因素、生物制品、临床和结果数据 方法和技术(例如，移动应用程序技术、光谱学)和大数据方法。 随着这些组成部分的增加，我们将继续为研究界提供重要的和 独特的家庭队列，解决癌症易感性的临床重要性的尖端研究问题， 生存和生存(例如，风险评估、早期检测标记的识别、知识和 风险感知)。通过这个资源，我们设想了一个巨大的翻译研究平台，它将 就与一级、二级和三级预防工作有关的复杂问题提供严格的证据。

项目成果

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.

NTHL1 杂合种系变异与乳腺癌易感性关联的评估：一项针对 47,180 名受试者的国际多中心研究。

• DOI: 10.1038/s41523-021-00255-3
• 发表时间: 2021-05-12
• 期刊: NPJ breast cancer
• 影响因子: 5.9
• 作者: Li N;Zethoven M;McInerny S;Devereux L;Huang YK;Thio N;Cheasley D;Gutiérrez-Enríquez S;Moles-Fernández A;Diez O;Nguyen-Dumont T;Southey MC;Hopper JL;Simard J;Dumont M;Soucy P;Meindl A;Schmutzler R;Schmidt MK;Adank MA;Andrulis IL;Hahnen E;Engel C;Lesueur F;Girard E;Neuhausen SL;Ziv E;Allen J;Easton DF;Scott RJ;Gorringe KL;James PA;Campbell IG
• 通讯作者: Campbell IG

Women's thoughts on receiving and sharing genetic information: Considerations for genetic counseling.

妇女对接受和共享遗传信息的想法：遗传咨询的考虑。

• DOI: 10.1002/jgc4.1599
• 发表时间: 2022-12
• 期刊: JOURNAL OF GENETIC COUNSELING
• 影响因子: 1.9
• 作者: Pfledderer, Christopher D.;Gren, Lisa H.;Frost, Caren J.;Andrulis, Irene L.;Chung, Wendy K.;Genkinger, Jeanine;Glendon, Gord;Hopper, John L.;John, Esther M.;Southey, Melissa;Terry, Mary Beth;Daly, Mary B.
• 通讯作者: Daly, Mary B.

Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.

• DOI: 10.1007/s10549-017-4469-0
• 发表时间: 2017-12
• 期刊: Breast cancer research and treatment
• 影响因子: 3.8
• 作者: Li J;Li H;Makunin I;kConFab Investigators;Thompson BA;Tao K;Young EL;Lopez J;Camp NJ;Tavtigian SV;John EM;Andrulis IL;Khanna KK;Goldgar D;Chenevix-Trench G
• 通讯作者: Chenevix-Trench G

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium.

• DOI: 10.1158/1055-9965.epi-19-0546
• 发表时间: 2020-02
• 期刊: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
• 作者: Li H;Terry MB;Antoniou AC;Phillips KA;Kast K;Mooij TM;Engel C;Noguès C;Stoppa-Lyonnet D;Lasset C;Berthet P;Mari V;Caron O;GENEPSO study;Barrowdale D;Frost D;Brewer C;Evans DG;Izatt L;Side L;Walker L;Tischkowitz M;Rogers MT;Porteous ME;Snape K;EMBRACE study;Meijers-Heijboer HEJ;Gille JJP;Blok MJ;Hoogerbrugge N;HEBON Investigators;Daly MB;Andrulis IL;Buys SS;John EM;McLachlan SA;Friedlander M;kConFab Investigators;Tan YY;Osorio A;Caldes T;Jakubowska A;Simard J;Singer CF;Olah E;Navratilova M;Foretova L;Gerdes AM;Roos-Blom MJ;Arver B;Olsson H;Schmutzler RK;Hopper JL;Milne RL;Easton DF;Van Leeuwen FE;Rookus MA;Andrieu N;Goldgar DE
• 通讯作者: Goldgar DE

Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

• DOI: 10.1186/s12885-018-4028-z
• 发表时间: 2018-02-08
• 期刊: BMC cancer
• 影响因子: 3.8
• 作者: Nguyen-Dumont T;Teo ZL;Hammet F;Roberge A;Mahmoodi M;Tsimiklis H;Park DJ;Pope BJ;Lonie A;Kapuscinski MK;Mahmood K;ABCFR;Goldgar DE;Giles GG;Winship I;Hopper JL;Southey MC
• 通讯作者: Southey MC