Nagy R, Sweet K, Eng C (2004) Highly penetrant hereditary cancer syndromes. Oncogene 23(38):6445–6470
Article CAS PubMed Google Scholar
Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C et al (2018) Pathogenic germline variants in 10,389 adult cancers. Cell 173(2):355–370
Article CAS PubMed PubMed Central Google Scholar
Rahman N (2014) Realizing the promise of cancer predisposition genes. Nature 505(7483):302–308
Article CAS PubMed PubMed Central Google Scholar
Yoshida R (2021) Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis. Breast Cancer 28(6):1167–1180
Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L et al (2016) Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet Med 18(8):823–832
Article CAS PubMed Google Scholar
Kast K, Rhiem K, Wappenschmidt B, Hahnen E, Hauke J, Bluemcke B et al (2016) Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet 53(7):465–471
Article CAS PubMed Google Scholar
Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A et al (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81(2):214–218
Article CAS PubMed Google Scholar
Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M et al (2011) Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum Mutat 32(4):407–414
Article CAS PubMed Google Scholar
Chan SH, Bylstra Y, Teo JX, Kuan JL, Bertin N, Gonzalez-Porta M et al (2022) Analysis of clinically relevant variants from ancestrally diverse Asian genomes. Nat Commun 13(1):6694
Article CAS PubMed PubMed Central Google Scholar
Anglian Breast Cancer Study Group (2000) Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer. 83(10):1301–8
Article PubMed Central Google Scholar
Whittemore AS, Gong G, John EM, McGuire V, Li FP, Ostrow KL et al (2004) Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic Whites. Cancer Epidemiol Biomarkers Prev 13(12):2078–83
Article CAS PubMed Google Scholar
Rahner N, Steinke V (2008) Hereditary cancer syndromes. Dtsch Arztebl Int 105(41):706–714
PubMed PubMed Central Google Scholar
Caeser R, Ngeow J (2023) It’s all in your genes: what primary care should know about hereditary cancer syndromes. The Singapore Family Physician. Contract No.: Unit No 3.
Evaluation of Genomic Applications in P, Prevention Working G (2009) Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med. 11(1):35–41
Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C et al (2010) Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304(9):967–975
Article CAS PubMed PubMed Central Google Scholar
Chiang J, Shaw T, Ngeow J (2023) Understanding cancer predisposition in Singapore: What’s next. Singapore Med J 64(1):37–44
Article PubMed PubMed Central Google Scholar
Frey MK, Ahsan MD, Bergeron H, Lin J, Li X, Fowlkes RK et al (2022) Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis. J Clin Oncol 40(35):4129–4143
Article PubMed PubMed Central Google Scholar
Chieng WS, Lee SC (2012) Discrepancy between initial high expression of interest in clinical cancer genetic testing and actual low uptake in an Asian population. Genet Test Mol Biomarkers 16(7):785–793
Yoon SY, Thong MK, Taib NA, Yip CH, Teo SH (2011) Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study. Fam Cancer 10(2):199–205
Li ST, Yuen J, Zhou K, Binte Ishak ND, Chen Y, Met-Domestici M et al (2017) Impact of subsidies on cancer genetic testing uptake in Singapore. J Med Genet 54(4):254–259
Chieng WS, Lee SC (2006) Establishing a cancer genetics programme in Asia - the singapore experience. Hered Cancer Clin Pract 4(3):126–135
Article PubMed PubMed Central Google Scholar
Courtney E, Chok AK, Ting Ang ZL, Shaw T, Li ST, Yuen J et al (2019) Impact of free cancer predisposition cascade genetic testing on uptake in Singapore. NPJ Genom Med 4:22
Article PubMed PubMed Central Google Scholar
Bednar EM, Sun CC, McCurdy S, Vernon SW (2020) Assessing relatives’ readiness for hereditary cancer cascade genetic testing. Genet Med 22(4):719–726
Fillon M (2019) Low-cost online cascade test may persuade relatives to investigate their own cancer risk. CA Cancer J Clin 69(2):86–87
Griffin NE, Buchanan TR, Smith SH, Leon AA, Meyer MF, Liu J et al (2020) Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention. Gynecol Oncol 156(1):140–146
Article CAS PubMed Google Scholar
Sun S, Li ST, Ngeow J (2020) Factors shaping at-risk individuals’ decisions to undergo genetic testing for cancer in Asia. Health Soc Care Community 28(5):1569–1577
Roberts MC, Dotson WD, DeVore CS, Bednar EM, Bowen DJ, Ganiats TG et al (2018) Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature. Health Aff (Millwood) 37(5):801–808
Foster C, Evans DG, Eeles R, Eccles D, Ashley S, Brooks L et al (2004) Non-uptake of predictive genetic testing for BRCA1/2 among relatives of known carriers: attributes, cancer worry, and barriers to testing in a multicenter clinical cohort. Genet Test 8(1):23–29
Article CAS PubMed Google Scholar
Precision Health Research, Singapore (PRECISE), Improving Access to Hereditary Cancer Genetic Testing 2023 [Available from: https://www.npm.sg/news-and-events/editorial-features/improving-access-to-hereditary-cancer-genetic-testing/.
Li ST, Sun S, Lie D, Met-Domestici M, Courtney E, Menon S et al (2018) Factors influencing the decision to share cancer genetic results among family members: An in-depth interview study of women in an Asian setting. Psychooncology 27(3):998–1004
Lim JN, Potrata B, Simonella L, Ng CW, Aw TC, Dahlui M et al (2015) Barriers to early presentation of self-discovered breast cancer in Singapore and Malaysia: a qualitative multicentre study. BMJ Open 5(12):e009863
Article PubMed PubMed Central Google Scholar
Bhoo-Pathy N, Hartman M, Yip CH, Saxena N, Taib NA, Lim SE et al (2012) Ethnic differences in survival after breast cancer in South East Asia. PLoS ONE 7(2):e30995
Article CAS PubMed PubMed Central Google Scholar
Shaw T, Ishak D, Lie D, Menon S, Courtney E, Li ST et al (2018) The influence of Malay cultural beliefs on breast cancer screening and genetic testing: A focus group study. Psychooncology 27(12):2855–2861
Farooqui M, Hassali MA, Knight A, Shafie AA, Farooqui MA, Saleem F et al (2013) A qualitative exploration of Malaysian cancer patients’ perceptions of cancer screening. BMC Public Health 13:48
Article PubMed PubMed Central Google Scholar
Kerr M, Pears R, Miedzybrodzka Z, Haralambos K, Cather M, Watson M et al (2017) Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK. Eur Heart J 38(23):1832–1839
Article PubMed PubMed Central Google Scholar
Teppala S, Hodgkinson B, Hayes S, Scuffham P, Tuffaha H (2023) A review of the cost-effectiveness of genetic testing for germline variants in familial cancer. J Med Econ 26(1):19–33
Green RF, Dotson WD, Bowen S, Kolor K, Khoury MJ (2015) Genomics in Public Health: Perspective from the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC). Healthcare (Basel) 3(3):830–837
Caswell-Jin JL, Zimmer AD, Stedden W, Kingham KE, Zhou AY, Kurian AW (2019) Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative. J Natl Cancer Inst 111(1):95–98
Suthers GK, Armstrong J, McCormack J, Trott D (2006) Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder. J Med Genet 43(8):665–670
Comments (0)