دورية أكاديمية
Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.
| العنوان: | Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification. |
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| المؤلفون: | Ho PJ; Genome Institute of Singapore, Human Genetics, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore., Ho WK; Cancer Research Malaysia, 1 Jalan SS12/1A, 47500, Subang Jaya, Selangor, Malaysia.; School of Mathematical Sciences, Faculty of Science and Engineering, University of Nottingham Malaysia, Jalan Broga, 43500, Semenyih, Selangor, Malaysia., Khng AJ; Genome Institute of Singapore, Human Genetics, Singapore, Singapore., Yeoh YS; Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore., Tan BK; Department of General Surgery, Sengkang General Hospital, Singapore, Singapore.; Department of Breast Surgery, Singapore General Hospital, Singapore, Singapore.; Division of Surgery and Surgical Oncology, National Cancer Centre Singapore, Singapore, Singapore., Tan EY; Department of General Surgery, Tan Tock Seng Hospital, Singapore, 308433, Singapore.; Lee Kong Chian School of Medicine, Nanyang Technology University, Singapore, Singapore.; Institute of Molecular and Cell Biology, Singapore, Singapore., Lim GH; KK Breast Department, KK Women's and Children's Hospital, Singapore, 229899, Singapore., Tan SM; Division of Breast Surgery, Changi General Hospital, Singapore, Singapore., Tan VKM; Department of Breast Surgery, Singapore General Hospital, Singapore, Singapore.; Division of Surgery and Surgical Oncology, National Cancer Centre Singapore, Singapore, Singapore., Yip CH; Subang Jaya Medical Centre, Subang Jaya, Selangor, Malaysia., Mohd-Taib NA; Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Universiti Malaya Cancer Research Institute, Kuala Lumpur, Malaysia., Wong FY; Division of Radiation Oncology, National Cancer Centre Singapore, Singapore, Singapore., Lim EH; Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore., Ngeow J; Lee Kong Chian School of Medicine, Nanyang Technology University, Singapore, Singapore.; Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore.; Cancer Genetics Service, National Cancer Centre Singapore, Singapore, Singapore., Chay WY; Division of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore., Leong LCH; Department of Diagnostic Radiology, Singapore General Hospital, Singapore, Singapore., Yong WS; Division of Radiation Oncology, National Cancer Centre Singapore, Singapore, Singapore., Seah CM; Division of Breast Surgery, Changi General Hospital, Singapore, Singapore., Tang SW; Department of Surgery, University Surgical Cluster, National University Hospital, Singapore, Singapore., Ng CWQ; Department of Surgery, University Surgical Cluster, National University Hospital, Singapore, Singapore., Yan Z; KK Breast Department, KK Women's and Children's Hospital, Singapore, 229899, Singapore., Lee JA; KK Breast Department, KK Women's and Children's Hospital, Singapore, 229899, Singapore., Rahmat K; Healthy Longevity Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Islam T; Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Universiti Malaya Cancer Research Institute, Kuala Lumpur, Malaysia., Hassan T; Cancer Research Malaysia, 1 Jalan SS12/1A, 47500, Subang Jaya, Selangor, Malaysia., Tai MC; Cancer Research Malaysia, 1 Jalan SS12/1A, 47500, Subang Jaya, Selangor, Malaysia., Khor CC; Genome Institute of Singapore, Human Genetics, Singapore, Singapore., Yuan JM; UPMC Hillman Cancer Center, Pittsburgh, PA, USA.; Department of Epidemiology, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA., Koh WP; Healthy Longevity Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Singapore Institute for Clinical Sciences, Agency for Science Technology and Research (A*STAR), Singapore, 117609, Singapore., Sim X; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore., Dunning AM; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Teo SH; Cancer Research Malaysia, 1 Jalan SS12/1A, 47500, Subang Jaya, Selangor, Malaysia.; Department of Surgery, Faculty of Medicine, University of Malaya, Jalan Universiti, 50630, Kuala Lumpur, Malaysia., Li J; Genome Institute of Singapore, Human Genetics, Singapore, Singapore. lijm1@gis.a-star.edu.sg.; Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore. lijm1@gis.a-star.edu.sg., Hartman M; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Department of Surgery, University Surgical Cluster, National University Hospital, Singapore, Singapore. |
| المصدر: | BMC medicine [BMC Med] 2022 Apr 26; Vol. 20 (1), pp. 150. Date of Electronic Publication: 2022 Apr 26. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: BioMed Central Country of Publication: England NLM ID: 101190723 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7015 (Electronic) Linking ISSN: 17417015 NLM ISO Abbreviation: BMC Med Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [London] : BioMed Central, 2003- |
| مواضيع طبية MeSH: | Breast Neoplasms*/diagnosis , Breast Neoplasms*/epidemiology , Breast Neoplasms*/genetics, Asian People ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Risk Assessment |
| مستخلص: | Background: Family history, and genetic and non-genetic risk factors can stratify women according to their individual risk of developing breast cancer. The extent of overlap between these risk predictors is not clear. Methods: In this case-only analysis involving 7600 Asian breast cancer patients diagnosed between age 30 and 75 years, we examined identification of high-risk patients based on positive family history, the Gail model 5-year absolute risk [5yAR] above 1.3%, breast cancer predisposition genes (protein-truncating variants [PTV] in ATM, BRCA1, BRCA2, CHEK2, PALB2, BARD1, RAD51C, RAD51D, or TP53), and polygenic risk score (PRS) 5yAR above 1.3%. Results: Correlation between 5yAR (at age of diagnosis) predicted by PRS and the Gail model was low (r=0.27). Fifty-three percent of breast cancer patients (n=4041) were considered high risk by one or more classification criteria. Positive family history, PTV carriership, PRS, or the Gail model identified 1247 (16%), 385 (5%), 2774 (36%), and 1592 (21%) patients who were considered at high risk, respectively. In a subset of 3227 women aged below 50 years, the four models studied identified 470 (15%), 213 (7%), 769 (24%), and 325 (10%) unique patients who were considered at high risk, respectively. For younger women, PRS and PTVs together identified 745 (59% of 1276) high-risk individuals who were not identified by the Gail model or family history. Conclusions: Family history and genetic and non-genetic risk stratification tools have the potential to complement one another to identify women at high risk. (© 2022. The Author(s).) |
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| معلومات مُعتمدة: | 203477/Z/16/Z United Kingdom WT_ Wellcome Trust; U19 CA148065 United States CA NCI NIH HHS; R01 CA080205 United States CA NCI NIH HHS; R01 CA144034 United States CA NCI NIH HHS; MR/P012930/1 United Kingdom MRC_ Medical Research Council; R35 CA053890 United States CA NCI NIH HHS; 16563 United Kingdom CRUK_ Cancer Research UK; R01 CA055069 United States CA NCI NIH HHS |
| فهرسة مساهمة: | Keywords: Breast cancer; Gail model; Polygenic risk score; Protein-truncating variants; Risk-based screening |
| تواريخ الأحداث: | Date Created: 20220426 Date Completed: 20220427 Latest Revision: 20240627 |
| رمز التحديث: | 20240627 |
| مُعرف محوري في PubMed: | PMC9040206 |
| DOI: | 10.1186/s12916-022-02334-z |
| PMID: | 35468796 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 1741-7015 |
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| DOI: | 10.1186/s12916-022-02334-z |