ID
45860
Beschrijving
Principal Investigator: Richard K. Wilson, PhD, The Genome Institute, Washington University School of Medicine, St. Louis, MO, USA MeSH: Breast Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001017 Genetic factors account for a large fraction of breast cancer risk and it is estimated that up to 30% of breast cancers have a heritable component. Inherited cancer susceptibility is associated with early-onset of malignancies in general. Although 20% of young women with breast cancer have germline mutations in the best understood breast cancer susceptibility genes, BRCA1, BRCA2 and TP53, in the remaining 80% of women with early-onset breast cancer, the genetic factors contributing to disease remain unexplained. By studying the extreme phenotype of women diagnosed at an early age there is enrichment for genetic factors that contribute to breast cancer. This study contains the whole exome sequence of 384 women diagnosed with invasive breast cancer prior to 40 years of age. Each of the subjects reported a family history of breast cancer and lacked mutations in BRCA1 and BRCA2.
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Trefwoorden
Versies (1)
- 08-10-23 08-10-23 - Simon Heim
Houder van rechten
Richard K. Wilson, PhD, The Genome Institute, Washington University School of Medicine, St. Louis, MO, USA
Geüploaded op
8 oktober 2023
DOI
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Licentie
Creative Commons BY 4.0
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dbGaP phs001017 Breast Cancer Susceptibility
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject DI, consent group, and affection status of participants with breast cancer and involved in the "Breast Cancer Susceptibility" project.
- Subject ID, sample ID, and sample use variable obtained from participants with breast cancer and involved in the "Breast Cancer Susceptibility" project.
- Subject ID, sex, and race of participants with breast cancer and involved in the "Breast Cancer Susceptibility" project.
- Sample ID, histological type of sample, analyte type, tissue where sample was obtained, and tumor status of participants with breast cancer and involved in the "Breast Cancer Susceptibility" project.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject DI, consent group, and affection status of participants with breast cancer and involved in the "Breast Cancer Susceptibility" project.
- Subject ID, sample ID, and sample use variable obtained from participants with breast cancer and involved in the "Breast Cancer Susceptibility" project.
- Subject ID, sex, and race of participants with breast cancer and involved in the "Breast Cancer Susceptibility" project.
- Sample ID, histological type of sample, analyte type, tissue where sample was obtained, and tumor status of participants with breast cancer and involved in the "Breast Cancer Susceptibility" project.
C0680251 (UMLS CUI [1,2])
C0853879 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
C0559119 (UMLS CUI [1,4])
C1549444 (UMLS CUI [1,5])
C1511022 (UMLS CUI [1,6])
C1511024 (UMLS CUI [1,7])