1. Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, Bray F (2021) Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. doi:10.3322/caac.21660
2. World Health Organization (2020) Thailand - Global Cancer Observatory 2020. https://gco.iarc.fr/today/data/factsheets/populations/764-thailand-fact-sheets.pdf. Accessed May 1 2021
3. Roy R, Chun J, Powell SN (2011) BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nat Rev Cancer 12 (1):68-78. doi:10.1038/nrc3181
4. Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N, Goldgar DE, Terry MB, Rookus MA, Easton DF, Antoniou AC, Brca, Consortium BC, McGuffog L, Evans DG, Barrowdale D, Frost D, Adlard J, Ong KR, Izatt L, Tischkowitz M, Eeles R, Davidson R, Hodgson S, Ellis S, Nogues C, Lasset C, Stoppa-Lyonnet D, Fricker JP, Faivre L, Berthet P, Hooning MJ, van der Kolk LE, Kets CM, Adank MA, John EM, Chung WK, Andrulis IL, Southey M, Daly MB, Buys SS, Osorio A, Engel C, Kast K, Schmutzler RK, Caldes T, Jakubowska A, Simard J, Friedlander ML, McLachlan SA, Machackova E, Foretova L, Tan YY, Singer CF, Olah E, Gerdes AM, Arver B, Olsson H (2017) Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA 317 (23):2402-2416. doi:10.1001/jama.2017.7112
5. Huszno J, Kolosza Z, Grzybowska E (2019) BRCA1 mutation in breast cancer patients: Analysis of prognostic factors and survival. Oncol Lett 17 (2):1986-1995. doi:10.3892/ol.2018.9770
6. Bayraktar S, Gutierrez-Barrera AM, Liu D, Tasbas T, Akar U, Litton JK, Lin E, Albarracin CT, Meric-Bernstam F, Gonzalez-Angulo AM, Hortobagyi GN, Arun BK (2011) Outcome of triple-negative breast cancer in patients with or without deleterious BRCA mutations. Breast Cancer Res Treat 130 (1):145-153. doi:10.1007/s10549-011-1711-z
7. Kwong A, Shin VY, Ho JC, Kang E, Nakamura S, Teo SH, Lee AS, Sng JH, Ginsburg OM, Kurian AW, Weitzel JN, Siu MT, Law FB, Chan TL, Narod SA, Ford JM, Ma ES, Kim SW (2016) Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. J Med Genet 53 (1):15-23. doi:10.1136/jmedgenet-2015-103132
8. Haque R, Shi JM, Telford C, Avila C, Alvarado M, Tiller GE, Dalvi T, Gutierrez L, Tyczynski J, Kaye JA (2018) Survival Outcomes in BRCA1 or BRCA2 Mutation Carriers and the Influence of Triple-Negative Breast Cancer Subtype. Perm J 22:17-197. doi:10.7812/TPP/17-197
9. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250 (4988):1684-1689. doi:10.1126/science.2270482
10. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, et al. (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266 (5182):66-71. doi:10.1126/science.7545954
11. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, et al. (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265 (5181):2088-2090. doi:10.1126/science.8091231
12. Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swense J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AK, Shizuya H, Eyfjord JE, Cannon-Albright L, Tranchant M, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE (1996) The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 12 (3):333-337. doi:10.1038/ng0396-333
13. Venkitaraman AR (2001) Functions of BRCA1 and BRCA2 in the biological response to DNA damage. J Cell Sci 114 (Pt 20):3591-3598
14. Gudmundsdottir K, Ashworth A (2006) The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability. Oncogene 25 (43):5864-5874. doi:10.1038/sj.onc.1209874
15. Armstrong N, Ryder S, Forbes C, Ross J, Quek RG (2019) A systematic review of the international prevalence of BRCA mutation in breast cancer. Clin Epidemiol 11:543-561. doi:10.2147/CLEP.S206949
16. Kang E, Seong MW, Park SK, Lee JW, Lee J, Kim LS, Lee JE, Kim SY, Jeong J, Han SA, Kim SW, Korean Hereditary Breast Cancer Study G (2015) The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. Breast Cancer Res Treat 151 (1):157-168. doi:10.1007/s10549-015-3377-4
17. Lang GT, Shi JX, Hu X, Zhang CH, Shan L, Song CG, Zhuang ZG, Cao AY, Ling H, Yu KD, Li S, Sun MH, Zhou XY, Huang W, Shao ZM (2017) The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing. Int J Cancer 141 (1):129-142. doi:10.1002/ijc.30692
18. Patmasiriwat P, Bhothisuwan K, Sinilnikova OM, Chopin S, Methakijvaroon S, Badzioch M, Padungsutt P, Vattanaviboon P, Vattanasapt V, Szabo C, Saunders GF, Goldgar D, Lenoir GM (2002) Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer. Hum Mutat 20 (3):230. doi:10.1002/humu.9049
19. Takol Chareonsirisuthigul BR, Donniphat Dejsuphong, Atchara Tunteera, Sunichya Jadsri, (2016) BRCA1 and BRCA2 Large Genomic Rearrangements Screening in Thai Familial Breast Cancer Patients by Multiplex Ligation-dependent Probe Amplification (MLPA). Naresuan University Journal: Science and Technology (NUJST) (2):100-105%V 124
20. Robson M, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, Delaloge S, Li W, Tung N, Armstrong A, Wu W, Goessl C, Runswick S, Conte P (2017) Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation. N Engl J Med 377 (6):523-533. doi:10.1056/NEJMoa1706450
21. Hortobagyi GN, Connolly JL, D’Orsi CJ, Edge SB, Mittendorf EA, Rugo HS, Solin LJ, Weaver DL, Winchester DJ, Giuliano A (2017) Breast. In: Amin MB, Edge SB (eds) AJCC cancer staging manual. 8th edn. springer, New York, pp 589-636
22. Focke CM, van Diest PJ, Decker T (2016) St Gallen 2015 subtyping of luminal breast cancers: impact of different Ki67-based proliferation assessment methods. Breast Cancer Res Treat 159 (2):257-263. doi:10.1007/s10549-016-3950-5
23. Church DM, Schneider VA, Graves T, Auger K, Cunningham F, Bouk N, Chen H-C, Agarwala R, McLaren WM, Ritchie GRS, Albracht D, Kremitzki M, Rock S, Kotkiewicz H, Kremitzki C, Wollam A, Trani L, Fulton L, Fulton R, Matthews L, Whitehead S, Chow W, Torrance J, Dunn M, Harden G, Threadgold G, Wood J, Collins J, Heath P, Griffiths G, Pelan S, Grafham D, Eichler EE, Weinstock G, Mardis ER, Wilson RK, Howe K, Flicek P, Hubbard T (2011) Modernizing reference genome assemblies. PLoS Biol 9 (7):e1001091-e1001091. doi:10.1371/journal.pbio.1001091
24. Genome Reference Consortium (2009) Genome Reference Consortium Human Build 37 (GRCh37). Database (GenBank or RefSeq) https://www.ncbi.nlm.nih.gov/pubmed/.
25. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Committee ALQA (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17 (5):405-424. doi:10.1038/gim.2015.30
26. StataCrop. (2019) Stata Statistical Software: Release 16. Collage Station, TX. StataCorp LLC,
27. Ang P, Lim IH, Lee TC, Luo JT, Ong DC, Tan PH, Lee AS (2007) BRCA1 and BRCA2 mutations in an Asian clinic-based population detected using a comprehensive strategy. Cancer Epidemiol Biomarkers Prev 16 (11):2276-2284. doi:10.1158/1055-9965.EPI-07-0403
28. Bhaskaran SP, Chandratre K, Gupta H, Zhang L, Wang X, Cui J, Kim YC, Sinha S, Jiang L, Lu B, Wu X, Qin Z, Huang T, Wang SM (2019) Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. Int J Cancer 145 (4):962-973. doi:10.1002/ijc.32176
29. Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Jang W, Karapetyan K, Katz K, Liu C, Maddipatla Z, Malheiro A, McDaniel K, Ovetsky M, Riley G, Zhou G, Holmes JB, Kattman BL, Maglott DR (2018) ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res 46 (D1):D1062-D1067. doi:10.1093/nar/gkx1153
30. Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN (2020) The Human Gene Mutation Database (HGMD((R))): optimizing its use in a clinical diagnostic or research setting. Hum Genet 139 (10):1197-1207. doi:10.1007/s00439-020-02199-3
31. Manchana T, Phowthongkum P, Teerapakpinyo C (2019) Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer. World J Clin Oncol 10 (11):358-368. doi:10.5306/wjco.v10.i11.358
32. Lertkhachonsuk AA, Suprasert P, Manchana T, Kittisiam T, Kantathavorn N, Chansoon T, Khunamornpong S, Pohthipornthawat N, Tangjitgamol S, Luasiripanthu T, Teerapakpinyo C, Shuangshot S, Iemwimangsa N, Chantratita W (2020) Prevalence of Tissue BRCA Gene Mutation in Ovarian, Fallopian Tube, and Primary Peritoneal Cancers: A Multi-Institutional Study. Asian Pac J Cancer Prev 21 (8):2381-2388. doi:10.31557/APJCP.2020.21.8.2381
33. Berry DA, Parmigiani G, Sanchez J, Schildkraut J, Winer E (1997) Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst 89 (3):227-238. doi:10.1093/jnci/89.3.227
34. Silver DP, Livingston DM (2012) Mechanisms of BRCA1 tumor suppression. Cancer Discov 2 (8):679-684. doi:10.1158/2159-8290.CD-12-0221
35. Kim EK, Park SY, Kim SW (2020) Clinicopathological characteristics of BRCA-associated breast cancer in Asian patients. J Pathol Transl Med 54 (4):265-275. doi:10.4132/jptm.2020.04.07
36. Han SA, Kim SW, Kang E, Park SK, Ahn SH, Lee MH, Nam SJ, Han W, Bae YT, Kim HA, Cho YU, Chang MC, Paik NS, Hwang KT, Kim SJ, Noh DY, Choi DH, Noh WC, Kim LS, Kim KS, Suh YJ, Lee JE, Jung Y, Moon BI, Yang JH, Son BH, Yom CK, Kim SY, Lee H, Jung SH, Group KR, the Korean Breast Cancer S (2013) The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study. Fam Cancer 12 (1):75-81. doi:10.1007/s10689-012-9578-7
37. Vocka M, Zimovjanova M, Bielcikova Z, Tesarova P, Petruzelka L, Mateju M, Krizova L, Kotlas J, Soukupova J, Janatova M, Zemankova P, Kleiblova P, Novotny J, Konopasek B, Chodacka M, Brychta M, Sochor M, Smejkalova-Musilova D, Cmejlova V, Kozevnikovova R, Miskarova L, Argalacsova S, Stolarova L, Lhotova K, Borecka M, Kleibl Z (2019) Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers. Cancers (Basel) 11 (6). doi:10.3390/cancers11060738
38. Vaziri SA, Krumroy LM, Elson P, Budd GT, Darlington G, Myles J, Tubbs RR, Casey G (2001) Breast tumor immunophenotype of BRCA1-mutation carriers is influenced by age at diagnosis. Clin Cancer Res 7 (7):1937-1945
39. Foulkes WD, Metcalfe K, Sun P, Hanna WM, Lynch HT, Ghadirian P, Tung N, Olopade OI, Weber BL, McLennan J, Olivotto IA, Begin LR, Narod SA (2004) Estrogen receptor status in BRCA1- and BRCA2-related breast cancer: the influence of age, grade, and histological type. Clin Cancer Res 10 (6):2029-2034. doi:10.1158/1078-0432.ccr-03-1061
40. Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D (2016) Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis. Medicine (Baltimore) 95 (40):e4975. doi:10.1097/MD.0000000000004975
41. Zhu Y, Wu J, Zhang C, Sun S, Zhang J, Liu W, Huang J, Zhang Z (2016) BRCA mutations and survival in breast cancer: an updated systematic review and meta-analysis. Oncotarget 7 (43):70113-70127. doi:10.18632/oncotarget.12158
42. De Talhouet S, Peron J, Vuilleumier A, Friedlaender A, Viassolo V, Ayme A, Bodmer A, Treilleux I, Lang N, Tille JC, Chappuis PO, Buisson A, Giraud S, Lasset C, Bonadona V, Tredan O, Labidi-Galy SI (2020) Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes. Sci Rep 10 (1):7073. doi:10.1038/s41598-020-63759-1
43. Kim H, Choi DH, Park W (2020) Germline BRCA Mutation and Clinical Outcomes in Breast Cancer Patients Focusing on Survival and Failure Patterns: A Long-Term Follow-Up Study of Koreans. Medicina (Kaunas) 56 (10). doi:10.3390/medicina56100514