Siegel, R. L., Miller, K. D., Wagle, N. S. & Jemal, A. Cancer statistics, 2023. CA Cancer J. Clin. 73, 17–48 (2023).

Article  PubMed  Google Scholar 

Arnold, M. et al. Current and future burden of breast cancer: global statistics for 2020 and 2040. Breast 66, 15–23 (2022).

Article  PubMed  PubMed Central  Google Scholar 

Nagy, R., Sweet, K. & Eng, C. Highly penetrant hereditary cancer syndromes. Oncogene. 23, 6445–70 (2004).

Article  CAS  PubMed  Google Scholar 

Garber, J. E. & Offit, K. Hereditary cancer predisposition syndromes. J. Clin. Oncol. 23, 276–292 (2005).

Article  PubMed  Google Scholar 

Daly M. B. et al. Genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 3.2023, NCCN clinical practice guidelines in oncology 2023 [Available from: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf].

Shiovitz, S. & Korde, L. A. Genetics of breast cancer: a topic in evolution. Ann. Oncol. 26, 1291–1299 (2015).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Graffeo, R. et al. Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1, and RAD51D. Breast. 65, 32–40 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Breast Cancer Association Consortium, Dorling, L. et al. Breast cancer risk genes - association analysis in more than 113,000 women. N. Engl. J. Med. 384, 428–439 (2021).

Article  Google Scholar 

Hu, C. et al. A population-based study of genes previously implicated in breast cancer. N. Engl. J. Med. 384, 440–451 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Kurian, A. W. et al. Uptake, results, and outcomes of germline multiple-gene sequencing after diagnosis of breast cancer. JAMA Oncol. 4, 1066–1072 (2018).

Article  PubMed  PubMed Central  Google Scholar 

Su, Y. et al. Characteristics of germline non-BRCA mutation status of high-risk breast cancer patients in China and correlation with high-risk factors and multigene testing suggestions. Front. Genet. 12, 674094 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ow, S. G. W., Ong, P. Y. & Lee, S. C. Discoveries beyond BRCA1/2: multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world. PLoS One. 14, e0213746 (2019).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li, J. Y. et al. Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer. Int. J. Cancer. 144, 281–9 (2019).

Article  CAS  PubMed  Google Scholar 

Mannan, A. U. et al. Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India. J. Hum. Genet. 61, 515–22 (2016).

Article  CAS  PubMed  Google Scholar 

Singh, J. et al. Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. Breast Cancer Res. Treat. 170, 189–196 (2018).

Article  CAS  PubMed  Google Scholar 

Lertwilaiwittaya, P. et al. A cost-utility analysis of BRCA1 and BRCA2 testing in high-risk breast cancer patients and family members in Thailand: a cost-effective policy in resource-limited settings. Front. Public Health. 11, 1257668 (2023).

Article  PubMed  PubMed Central  Google Scholar 

Tuffaha, H. W. et al. Cost-effectiveness analysis of germ-line BRCA testing in women with breast cancer and cascade testing in family members of mutation carriers. Genet. Med. 20, 985–994 (2018).

Article  PubMed  Google Scholar 

Lourenção, M. et al. Cost-effectiveness of BRCA 1/2 genetic test and preventive strategies: using real-world data from an upper-middle income country. Front. Oncol. 12, 951310 (2022).

Article  PubMed  PubMed Central  Google Scholar 

Wong, E. S. Y. et al. Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore. NPJ Genom. Med. 1, 15003 (2016).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shin, H. C. et al. Detection of germline mutations in breast cancer patients with clinical features of hereditary cancer syndrome using a multi-gene panel test. Cancer Res. Treat. 52, 697–713 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kapoor, N. S. et al. Multigene panel testing detects equal rates of pathogenic BRCA1/2 mutations and has a higher diagnostic yield compared to limited BRCA1/2 analysis alone in patients at risk for hereditary breast cancer. Ann Surg Oncol. 22, 3282–3288 (2015).

Article  PubMed  Google Scholar 

Moslemi, M. et al. The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis. Cancer Cell Int. 21, 474 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Thompson, D. et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J. Natl. Cancer Inst. 97, 813–822 (2005).

Article  CAS  PubMed  Google Scholar 

Couch, F. J. et al. Associations between cancer predisposition testing panel genes and breast cancer. JAMA Oncol. 3, 1190–1196 (2017).

Article  PubMed  PubMed Central  Google Scholar 

Bernstein, J. L. et al. Radiation exposure, the ATM Gene, and contralateral breast cancer in the women’s environmental cancer and radiation epidemiology study. J. Natl. Cancer Inst. 102, 475–483 (2010).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yadav, S. et al. Evaluation of germline genetic testing criteria in a hospital-based series of women with breast cancer. J Clin Oncol. 38, 1409–1418 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Desai, N. V., Yadav, S., Batalini, F., Couch, F. J. & Tung, N. M. Germline genetic testing in breast cancer: rationale for the testing of all women diagnosed by the age of 60 years and for risk-based testing of those older than 60 years. Cancer. 127, 828–833 (2021).

Article  PubMed  Google Scholar 

Manahan, E. R. et al. Consensus guidelines on genetic‘ testing for hereditary breast cancer from the american society of breast surgeons. Ann. Surg. Oncol. 26, 3025–3031 (2019).

Article  PubMed  PubMed Central  Google Scholar 

Whitworth, P. W. et al. Clinical utility of universal germline genetic testing for patients with breast cancer. JAMA Netw. Open. 5, e2232787 (2022).

Article  PubMed  PubMed Central  Google Scholar 

Culver, J. O. et al. Integration of universal germline genetic testing for all new breast cancer patients. Ann. Surg. Oncol. 30, 1017–1025 (2023).

Article  PubMed  Google Scholar 

LaDuca, H. et al. A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients. Genet. Med. 22, 407–415 (2020).

Article  CAS  PubMed  Google Scholar 

Eoh, K. J. et al. Detection of germline mutations in patients with epithelial ovarian cancer using multi-gene panels: beyond BRCA1/2. Cancer Res Treat. 50, 917–925 (2018).

Article  CAS  PubMed  Google Scholar 

Lhotova, K. et al. multigene panel germline testing of 1333 Czech patients with ovarian cancer. Cancers. 12, 956 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bonadona, V. et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 305, 2304–2310 (2011).

Article  CAS  PubMed  Google Scholar 

Engel, C. et al. Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol. 30, 4409–4415 (2012).

Article  PubMed  Google Scholar 

Sun, L. et al. A cost-effectiveness analysis of multigene testing for all patients with breast cancer. JAMA Oncol. 5, 1718–1730 (2019).

Article  PubMed  PubMed Central  Google Scholar 

Megid, T. B. C., Barros-Filho, M. C., Pisani, J. P. & Achatz, M. I. Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer. Front. Oncol. 12, 873395 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tuffaha H. et al. Guidelines for genetic testing in prostate cancer: a scoping review. Prostate Cancer Prostatic Dis. https://doi.org/10.1038/s41391-023-00676-0 (2023).

Lertwilaiwittaya, P. et al. Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing. Br