Breast Cancer Family Registry

摘要。乳腺癌家族登记（BCFR）队列是一个特征良好的国际队列， 多代同堂家庭，自1995年成立以来，一直支持跨学科合作研究。 在美国的六个地点，加拿大和澳大利亚，我们招募并继续跟踪了33，037名女性和6，992名女性 来自15,056个家庭的男子。与无关个体的队列不同，BCFR队列能够广泛而深入地 改变乳腺癌易感性和影响治疗前后结果的因素的研究 由于队列的独特特征，包括家族和遗传风险的全谱， 以及45岁以下的妇女所占比例很大（登记时为12 384人（37%））。BCFR 队列是多样化的，26%的家庭来自研究中代表性不足的人口（6%是亚洲/太平洋岛民， 6%黑人，8%西班牙裔，5%混合种族）。我们已经建立并保存了全面的生物标本 资源（例如，细胞系、DNA、血浆、肿瘤组织）。我们跟踪了那些未受影响的人 （n= 27，753）或在入组时患有乳腺癌（n= 12，276）长达26年（平均随访时间- 分别为19.1岁和15.8岁），我们前瞻性地确定了1，062例乳腺癌事件 和1,105个第二乳腺癌事件（例如，复发，第二原发性乳腺癌）在未受影响的， 乳腺癌和乳腺癌患者在基线亚组分别。在过去的四年里， 我们扩大了招聘，招收了701名45岁以下的年轻妇女。未来五年，我们 建议在所有六个BCFR中采用系统和协调的方法进一步丰富BCFR队列 1）通过招募1，090名年轻女性来扩大队列， 在45岁之前新诊断患有乳腺癌，并且至少有一个一级亲属， 种族、民族和社会经济多样性（78%的年轻乳腺癌家庭来自代表性不足的家庭） 人群）; 2）通过有效的数据跟踪所有参与者，提高整个BCFR队列的价值 与环境暴露和成果数据库的联系（例如，癌症和死亡登记处）; 3）维持 扩大生物样本资源，包括收集血浆和尿液中的无细胞DNA; 继续促进和扩大外部研究者和大型财团对BCFR资源的使用 世界各地通过包括几个新的组成部分，我们的目标是回答问题的作用，生命过程 风险的累积、暴露的关键窗口以及乳腺癌增加的潜在因素 年轻女性的发病率。我们将继续为国际研究界提供资源， 广泛的流行病学和分子数据。我们仍然专注于解决临床上重要的研究 关于乳腺癌易感性、结局、生存率和生存率的问题，并继续致力于减少 通过对乳腺癌发展和进展的基于发现的研究来减轻乳腺癌负担。

ABSTRACT. The Breast Cancer Family Registry (BCFR) Cohort is a well-characterized international cohort of multi-generational families that from its inception in 1995 has supported interdisciplinary collaborative research. Across six sites in the U.S., Canada, and Australia, we recruited and continue to follow 33,037 women and 6,992 men from 15,056 families. Unlike cohorts of unrelated individuals, the BCFR Cohort enables a broad and deep investigation of factors that modify breast cancer susceptibility and affect outcomes both before and after diagnosis due to the unique characteristics of the cohort, including the full spectrum of familial and genetic risk and the large proportion of women recruited under 45 years of age (n=12,384 (37%) at enrollment). The BCFR Cohort is diverse with 26% of families from populations underrepresented in research (6% Asian/Pacific Islander, 6% Black, 8% Hispanic, 5% mixed ethnicity). We have created and maintained comprehensive biospecimen resources (e.g., cell lines, DNA, plasma, tumor tissue). We have followed individuals who were unaffected (n=27,753) or affected (n=12,276) with breast cancer at enrollment for up to 26 years (average length of follow- up = 19.1 and 15.8 years, respectively), and we have prospectively ascertained 1,062 incident breast cancers and 1,105 second breast cancer events (e.g., recurrences, second primary breast cancer) in the unaffected with breast cancer and affected with breast cancer at baseline sub-cohorts, respectively. During the past four years, we have expanded recruitment and enrolled 701 young women under age 45 years. In the next five years we propose to further enrich the BCFR Cohort using a systematic and coordinated approach across all six BCFR sites over the next five years by 1) expanding the Cohort through enrollment of 1,090 young women who are newly diagnosed with breast cancer before age 45 years and at least one first degree relative, increasing the racial, ethnic, and socioeconomic diversity (78% of young breast cancer families will be from underrepresented populations); 2) enhancing the value of the full BCFR Cohort by following all participants through efficient data linkages to environmental exposure and outcome databases (e.g., cancer and death registries); 3) maintaining and expanding the biospecimen resources, including collection of plasma for cell-free DNA and urine; and 4) continuing to promote and expand the use of BCFR resources by external investigators and large consortia around the world. By including several novel components, we aim to answer questions on the role of life course on accumulation of risk, critical windows of exposure, and the factors underlying the increase in breast cancer incidence in young women. We will continue to serve as a resource to the international research community with extensive epidemiologic and molecular data. We remain focused on addressing clinically important research questions on breast cancer susceptibility, outcomes, survival and survivorship and remain committed to reducing the breast cancer burden through discovery-based research about breast cancer development and progression.