Metadata supporting the article: Inherited Predisposition to Breast Cancer in the Carolina Breast Cancer Study
Creators: name: Walsh, Tom
name: Gulsuner, Suleyman
name: Lee, Ming K.
name: Troester, Melissa A.
name: Olshan, Andrew F.
name: H. Shelton Earp
name: Perou, Charles M.
name: Mary-Claire King
Publisher: name: figshare
Year: 2020
Subjects: subject: 69999 Biological Sciences not elsewhere classified
subject: FOS: Biological sciences
subject: FOS: Biological sciences
subject: Biological Techniques
subject: Cancer
subject: Medicine
subject: 111203 Cancer Genetics
subject: FOS: Clinical medicine
subject: FOS: Clinical medicine

description: The Carolina Breast Cancer Study (CBCS) was designed in the early 1990s to evaluate genetic and social risk factors for invasive breast cancer. Among the important results of the CBCS was elucidation of the relationship among breast tumor subtype, race, and survival. The CBCS was also the setting of the first survey of BRCA1 mutation frequency in any population, based on the first CBCS participants. However, until now, the CBCS cohort was never comprehensively sequenced for mutations in genes predisposing to breast cancer.In this study, the authors undertook to sequence all known and candidate breast cancer genes in all cases and controls from CBCS phases I-II. <br><b>Data access</b>: Pathogenic variants reported in this study for the first time, are available in the NCBI ClinVar repository: <b>https://identifiers.org/clinvar.submission:SCV00144312</b>, <b>https://identifiers.org/clinvar.submission:SCV00144312, https://identifiers.org/clinvar.submission:SCV001443217</b> and <b>https://identifiers.org/clinvar.submission:SCV001443129</b>.CBCS demographic and clinical data are not publicly available in order to protect patient privacy, but will be made available on reasonable request from the corresponding author, Dr. Mary-Claire King, email address: <b>mcking@uw.edu</b>. Other data supporting the findings of this study are included in the supplementary tables of the article.<br><b>Study approval and patient consent</b>: This project was approved by the institutional review boards of the Lineberger Cancer Center at University of North Carolina and of the University of Washington. Participants in the CBCS signed written informed consent at enrollment, including for use of their DNA.<br><b>Study aims and methodology</b>: In this study, the authors undertook to sequence all known and candidate breast cancer genes in all cases and controls from CBCS phases I-II. The goals were to estimate the risks of invasive breast cancer and of triple negative breast cancer (TNBC) associated with pathogenic variants in these genes and to evaluate the relationships among inherited predisposition, ancestry, and tumor subtype.Between 1993 and 1999, CBCS phases I-II enrolled women diagnosed with invasive breast cancer between ages 20 and 74, identified by the North Carolina Central Cancer Registry as residents of one of the 24 counties of central North Carolina. From all participants, CBCS collected information on multiple reproductive and physical risk factors. Family history of cancer was recorded but was not a criterion for inclusion in the study. Participants also provided samples of peripheral whole blood from which DNA was extracted for subsequent genetic analyses. Genomic analysis was carried out for 1370 different cases and 1635 different controls.For details on tumor analysis, genomics and statistical analysis, please refer to the related article.<br><b>Data supporting the findings of the study</b>: Pathogenic variants reported in this study for the first time, are available in the NCBI ClinVar repository: https://identifiers.org/clinvar.submission:SCV001443125, https://identifiers.org/clinvar.submission:SCV001443126, https://identifiers.org/clinvar.submission:SCV001443217 and https://identifiers.org/clinvar.submission:SCV001443129. The dataset <b>CBCS demographic and clinical.xlsx</b> is in .xlsx file format and it is available on request from the corresponding author as described in the data access section above. The file <b>CBCS variants.xlsx</b>, is part of the supplementary tables of the article.<br>