DRIVE Breast Cancer Whole Genome Sequencing

This study consists of whole genome sequencing (target: average 30x coverage) of 110 European-ancestry (EA), early-onset, family-history-positive breast cancer cases, 21 Asian cases, 25 African-American cases, and 24 controls from six studies participating in the Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) consortium, part of the NCI's Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative ( http://epi.grants.cancer.gov/gameon/ ) ]]>
All cases were diagnosed with breast cancer before age 50. These cases were drawn from six studies: the SEARCH study (http://ccge.medschl.cam.ac.uk/search-study), the Nurses Health Study (http://nurseshealthstudy.org), the Shanghai Breast Cancer Study, and the Multiethnic Cohort (http://www.uhcancercenter.org/research/the-multiethnic-cohort-study-mec ), the Women's Contraceptive and Reproductive Experiences (CARE) study and Women's Learning the Influence of Family and Environment (LIFE) study. Cases from the SEARCH, the Nurses Health Study, and Multiethnic Cohort were further restricted to those reporting at least one first-degree family member diagnosed with breast cancer (at least two first-degree family members in the case of SEARCH). The 24 African American controls were drawn from the MEC.]]>

本研究对来自六项研究的受试者开展全基因组测序（whole genome sequencing，目标平均测序覆盖度30x），共纳入110例欧洲血统（European-ancestry, EA）早发、家族史阳性乳腺癌患者、21例亚裔乳腺癌患者、25例非裔美国人乳腺癌患者，以及24名健康对照。上述六项研究隶属于乳腺癌遗传变异发现、生物学与风险（Discovery, Biology, and Risk of Inherited Variants in Breast Cancer, DRIVE）联盟，该联盟是美国国家癌症研究所（National Cancer Institute, NCI）肿瘤学遗传关联与机制（Genetic Associations and Mechanisms in Oncology, GAME-ON）计划的组成部分，相关详情可访问http://epi.grants.cancer.gov/gameon/ 查询。
所有病例均在50岁前被确诊为乳腺癌。本次研究纳入的病例来自六项研究：SEARCH研究（http://ccge.medschl.cam.ac.uk/search-study）、护士健康研究（http://nurseshealthstudy.org）、上海乳腺癌研究、多民族队列研究（http://www.uhcancercenter.org/research/the-multiethnic-cohort-study-mec）、女性避孕与生育经历（CARE）研究，以及女性家庭与环境影响（LIFE）研究。其中，来自SEARCH研究、护士健康研究与多民族队列研究的病例被进一步限定为至少有1名一级亲属罹患乳腺癌（SEARCH研究的病例则要求至少有2名一级亲属罹患乳腺癌）。24名非裔美国人对照均来自多民族队列（MEC）。