Predicting the likelihood of carrying or pathogenic variants in high-risk Pakistani breast cancer patients

Sung H, Ferlay J, Siegel RL (2021) Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA A Cancer J Clinicians 71:209–249. https://doi.org/10.3322/caac.21660

Article  CAS  Google Scholar 

Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, Evans DG, Izatt L, Eeles RA, Adlard J (2013) Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst 105:812–822. https://doi.org/10.1093/jnci/djt095

Article  CAS  PubMed  Google Scholar 

Hartmann LC, Lindor NM (2016) The role of risk-reducing surgery in hereditary breast and ovarian cancer. N Engl J Med 374:454–468. https://doi.org/10.1056/nejmra1503523

Article  CAS  PubMed  Google Scholar 

Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips K-A, Mooij TM, Roos-Blom M-J, Jervis S, Van Leeuwen FE, Milne RL, Andrieu N (2017) Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 317:2402–2416. https://doi.org/10.1001/jama.2017.7112

Article  CAS  PubMed  Google Scholar 

Ho W-K, Hassan NT, Yoon S-Y, Yang X, Lim JM, Ishak NDB, Ho PJ, Wijaya EA, Ng PP-S, Luccarini C (2024) Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants–an Asian study of 572 families. Lancet Reg Health West Pac. https://doi.org/10.1016/j.lanwpc.2024.101017

Article  PubMed  PubMed Central  Google Scholar 

Tung NM, Garber JE (2018) BRCA1/2 testing: therapeutic implications for breast cancer management. Br J Cancer 119:141–152. https://doi.org/10.1038/s41416-018-0127-5

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kemp Z, Turnbull A, Yost S, Seal S, Mahamdallie S, Poyastro-Pearson E, Warren-Perry M, Eccleston A, Tan M-M, Teo SH (2019) Evaluation of cancer-based criteria for use in mainstream BRCA1 and BRCA2 genetic testing in patients with breast cancer. JAMA Netw Open 2:e194428–e194428. https://doi.org/10.1001/jamanetworkopen.2019.4428

Article  PubMed  PubMed Central  Google Scholar 

Yadav S, Hu C, Hart SN, Boddicker N, Polley EC, Na J, Gnanaolivu R, Lee KY, Lindstrom T, Armasu S, Fitz-Gibbon P, Ghosh K, Stan DL, Pruthi S, Neal L, Sandhu N, Rhodes DJ, Klassen C, Peethambaram PP, Haddad TC, Olson JE, Hoskin TL, Goetz MP, Domchek SM, Boughey JC, Ruddy KJ, Couch FJ (2020) Evaluation of germline genetic testing criteria in a hospital-based series of women with breast cancer. J Clin Oncol 38:1409–1418. https://doi.org/10.1200/jco.19.02190

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pederson HJ, Narod SA (2024) Commentary: Why is genetic testing underutilized worldwide? The case for hereditary breast cancer. BJC Rep 2:73. https://doi.org/10.1038/s44276-024-00099-x

Article  PubMed  PubMed Central  Google Scholar 

Nakamura S, Kwong A, Kim S-W, Iau P, Patmasiriwat P, Dofitas R, Aryandono T, Hu Z, Huang C-S, Ginsburg O (2016) Current status of the management of hereditary breast and ovarian cancer in Asia: first report by the Asian BRCA consortium. Public Health Genom 19:53–60. https://doi.org/10.1159/000441714

Article  Google Scholar 

Cintolo-Gonzalez JA, Braun D, Blackford AL, Mazzola E, Acar A, Plichta JK, Griffin M, Hughes KS (2017) Breast cancer risk models: a comprehensive overview of existing models, validation, and clinical applications. Breast Cancer Res Treat 164:263–284. https://doi.org/10.1007/s10549-017-4247-z

Article  PubMed  Google Scholar 

Arnold AG, Otegbeye E, Fleischut MH, Glogowski EA, Siegel B, Boyar SR, Salo-Mullen E, Amoroso K, Sheehan M, Berliner JL (2014) Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families. Breast Cancer Res Treat 145:625–634. https://doi.org/10.1007/s10549-014-2987-6

Article  CAS  PubMed  Google Scholar 

Møller NB, Boonen DS, Feldner ES, Hao Q, Larsen M, Lænkholm A-V, Borg Å, Kvist A, Törngren T, Jensen UB (2023) Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes. Sci Rep 13:8536. https://doi.org/10.1038/s41598-023-35755-8

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hung F-H, Wang YA, Jian J-W, Peng H-P, Hsieh L-L, Hung C-F, Yang MM, Yang A-S (2019) Evaluating BRCA mutation risk predictive models in a Chinese cohort in Taiwan. Sci Rep 9:10229. https://doi.org/10.1038/s41598-019-46707-6

Article  CAS  PubMed  PubMed Central  Google Scholar 

Thirthagiri E, Lee S, Kang P, Lee D, Toh G, Selamat S, Yoon S, Taib NM, Thong M, Yip C (2008) Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer. Breast Cancer Res 10:1–12. https://doi.org/10.1186/bcr2118

Article  CAS  Google Scholar 

Kwong A, Wong CH, Suen DT, Co M, Kurian AW, West DW, Ford JM (2012) Accuracy of BRCA1/2 mutation prediction models for different ethnicities and genders: experience in a southern Chinese cohort. World J Surg 36:702–713. https://doi.org/10.1007/s00268-011-1406-y

Article  PubMed  PubMed Central  Google Scholar 

Kang E, Park SK, Lee JW, Kim Z, Noh W-C, Jung Y, Yang J-H, Jung SH, Kim S-W (2016) KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients. J Hum Genet 61:365–371. https://doi.org/10.1038/jhg.2015.164

Article  CAS  PubMed  Google Scholar 

Ang BH, Ho WK, Wijaya E, Kwan PY, Ng PS, Yoon SY, Hasan SN, Lim JM, Hassan T, Tai M-C (2022) Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation in Asian patients with breast cancer. J Clin Oncol 40:1542–1551. https://doi.org/10.1200/jco.21.01647

Article  CAS  PubMed  Google Scholar 

Rashid MU, Zaidi A, Torres D, Sultan F, Benner A, Naqvi B, Shakoori AR, Seidel-Renkert A, Farooq H, Narod S (2006) Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. Int J Cancer 119:2832–2839. https://doi.org/10.1002/ijc.22269

Article  CAS  PubMed  Google Scholar 

Rashid MU, Muhammad N, Naeemi H, Khan FA, Hassan M, Faisal S, Gull S, Amin A, Loya A, Hamann U (2019) Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study. Hered Cancer Clini Pract 17:1–13. https://doi.org/10.1186/s13053-019-0125-5

Article  CAS  Google Scholar 

Rashid MU, Muhammad N, Amin A, Loya A, Hamann U (2017) Contribution of BRCA1 large genomic rearrangements to early-onset and familial breast/ovarian cancer in Pakistan. Breast Cancer Res Treat 161:191–201. https://doi.org/10.1007/s10549-016-4044-0

Article  CAS  PubMed  Google Scholar 

Little RJ, Rubin DB (2019) Statistical analysis with missing data. John Wiley & Sons, Hoboken

Google Scholar 

Hanley JA, McNeil BJ (1982) The meaning and use of the area under a receiver operating characteristic (ROC) curve. Radiology 143:29–36. https://doi.org/10.1148/radiology.143.1.7063747

Article  CAS  PubMed  Google Scholar 

Comments (0)

No login
gif