دورية أكاديمية
Inference on the Genetic Architecture of Breast Cancer Risk.
| العنوان: | Inference on the Genetic Architecture of Breast Cancer Risk. |
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| المؤلفون: | Yasui Y; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee.; School of Public Health, University of Alberta, Edmonton, Alberta, Canada., Letsou W; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee., Wang F; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee., Im C; School of Public Health, University of Alberta, Edmonton, Alberta, Canada., Sapkota Y; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee., Wang Z; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee., Salehabadi SM; Department of Biostatistics, St. Jude Children's Research Hospital, Memphis, Tennessee., Baedke JL; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee., Moon WJ; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee., Liu Q; School of Public Health, University of Alberta, Edmonton, Alberta, Canada., Robison LL; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee., Martinez JM; Department of Statistics and Operations Research, The Polytechnic University of Catalonia, Barcelona, Spain. |
| المصدر: | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology [Cancer Epidemiol Biomarkers Prev] 2023 Nov 01; Vol. 32 (11), pp. 1518-1523. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 9200608 Publication Model: Print Cited Medium: Internet ISSN: 1538-7755 (Electronic) Linking ISSN: 10559965 NLM ISO Abbreviation: Cancer Epidemiol Biomarkers Prev Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Philadelphia, PA : American Association for Cancer Research, c1991- |
| مواضيع طبية MeSH: | BRCA1 Protein*/genetics , Breast Neoplasms*/epidemiology , Breast Neoplasms*/genetics , Breast Neoplasms*/complications, Humans ; Female ; Genome-Wide Association Study ; BRCA2 Protein/genetics ; Twins, Monozygotic/genetics ; Twins, Dizygotic/genetics ; Diseases in Twins/etiology ; Diseases in Twins/genetics ; Risk Factors ; DNA |
| مستخلص: | Background: What are the major determinants of women's breast cancer risk? Rare mutations such as those in the BRCA1/2 genes, polygenic scores of common alleles identified by genome-wide association studies, or nongenetic factors? Methods: The population-based Nordic Twin Study of Cancer, with 3,933 breast cancer cases among 21,054 monozygotic (MZ) and 30,939 dizygotic (DZ) female twin pairs, provides three key clues to this question: (i) the average lifetime risk, approximately 8%, does not differ by twin zygosity; (ii) the mean time interval between diagnoses when both twins develop disease (i.e., disease concordance) also does not differ by zygosity; but, (iii) conditioning on one twin having developed disease, the incidence rate in the co-twin is approximately 1% per year if the pair is MZ and 0.5% per year if DZ. Results: Assuming that nongenetic risk factors are shared similarly between twins regardless of zygosity, we can draw two conclusions from (i) to (iii). Conclusions: First, (i) and (iii) imply that the chief determinant of risk is in the germline DNA, because the conditional incidence rate is several-fold higher than the average risk (8% lifetime) in MZ twins but only half as much in DZ twins. Second, the seeming inconsistency between the two-fold conditional incidence rate (iii) and the equality of the mean inter-twin disease intervals in disease concordance (ii) can be resolved if the risk factors in the germline DNA are rare variants, not common variants. Impact: This paper details simple deductive reasoning for these conclusions and draws a critical inference regarding breast cancer etiology. See related In the Spotlight, p. 1477. (©2023 American Association for Cancer Research.) |
| التعليقات: | Comment in: Cancer Epidemiol Biomarkers Prev. 2023 Nov 1;32(11):1477-1478. doi: 10.1158/1055-9965.EPI-23-0897. (PMID: 37698541) |
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| معلومات مُعتمدة: | R01 CA216354 United States CA NCI NIH HHS; T32 CA225590 United States CA NCI NIH HHS |
| المشرفين على المادة: | 0 (BRCA1 protein, human) 0 (BRCA1 Protein) 0 (BRCA2 protein, human) 0 (BRCA2 Protein) 9007-49-2 (DNA) |
| تواريخ الأحداث: | Date Created: 20230118 Date Completed: 20231102 Latest Revision: 20240828 |
| رمز التحديث: | 20240828 |
| مُعرف محوري في PubMed: | PMC10352461 |
| DOI: | 10.1158/1055-9965.EPI-22-1073 |
| PMID: | 36652676 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1538-7755 |
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| DOI: | 10.1158/1055-9965.EPI-22-1073 |