A global perspective on the ethnic-specific BRCA variation and its implication in clinical application

Roy, 2011, BRCA1 and BRCA2: different roles in a common pathway of genome protection, Nat Rev Cancer, 12, 68, 10.1038/nrc3181 Huttley, 2000, Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Australian breast cancer family study, Nat Genet, 25, 410, 10.1038/78092 Turnbull, 2018, Cancer genetics, precision prevention and a call to action, Nat Genet, 50, 1212, 10.1038/s41588-018-0202-0 Kuchenbaecker, 2017, Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers, JAMA, 317, 2402, 10.1001/jama.2017.7112 Antoniou, 2003, Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies, Am J Hum Genet, 72, 1117, 10.1086/375033 Chen, 2007, Meta-analysis of BRCA1 and BRCA2 penetrance, J Clin Oncol, 25, 1329, 10.1200/JCO.2006.09.1066 Miki, 1994, A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1, Science, 266, 66, 10.1126/science.7545954 Wooster, 1994, Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13, Science, 265, 2088, 10.1126/science.8091231 Stratton, 2008, The emerging landscape of breast cancer susceptibility, Nat Genet, 40, 17, 10.1038/ng.2007.53 Kulkarni, 2016, Advances in the recognition and management of hereditary cancer, Br Med Bull, 120, 123, 10.1093/bmb/ldw046 Burke, 1997, Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer genetics studies consortium, JAMA, 277, 997, 10.1001/jama.1997.03540360065034 Pujade-Lauraine, 2017, Olaparib tablets as maintenance therapy in patients with platinum-sensitive, relapsed ovarian cancer and a BRCA1/2 mutation (SOLO2/ENGOT-Ov21): a double-blind, randomised, placebo-controlled, phase 3 trial, Lancet Oncol, 18, 1274, 10.1016/S1470-2045(17)30469-2 Kauff, 2008, Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study, J Clin Oncol, 26, 1331, 10.1200/JCO.2007.13.9626 King, 2014, Population-based screening for BRCA1 and BRCA2:2014 Lasker Award, JAMA, 312, 1091, 10.1001/jama.2014.12483 Brown, 2017, Targeting DNA Repair in Cancer: beyond PARP Inhibitors, Cancer Discov, 7, 20, 10.1158/2159-8290.CD-16-0860 Fong, 2009, Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers, N Engl J Med, 361, 123, 10.1056/NEJMoa0900212 Narod, 2004, BRCA1 and BRCA2: 1994 and beyond, Nat Rev Cancer, 4, 665, 10.1038/nrc1431 Kojic, 2002, BRCA2 homolog required for proficiency in DNA repair, recombination, and genome stability in Ustilago maydis, Mol Cell, 10, 683, 10.1016/S1097-2765(02)00632-9 Pfeffer, 2017, The evolution, functions and applications of the breast cancer genes BRCA1 and BRCA2, Cancer Genomics Proteomics, 14, 293 Fleming, 2003, Understanding missense mutations in the BRCA1 gene: an evolutionary approach, Proc Natl Acad Sci U S A, 100, 1151, 10.1073/pnas.0237285100 Abkevich, 2004, Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation, J Med Genet, 41, 492, 10.1136/jmg.2003.015867 Pavlicek, 2004, Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition, Hum Mol Genet, 13, 2737, 10.1093/hmg/ddh301 Burk-Herrick, 2006, Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans, Mamm Genome, 17, 257, 10.1007/s00335-005-0067-2 O'Connell, 2010, Selection and the cell cycle: positive Darwinian selection in a well-known DNA damage response pathway, J Mol Evol, 71, 444, 10.1007/s00239-010-9399-y Lou, 2014, Rapid evolution of BRCA1 and BRCA2 in humans and other primates, BMC Evol Biol, 14, 155, 10.1186/1471-2148-14-155 Chen, 2020, BRCA1 deficiency impairs mitophagy and promotes inflammasome activation and mammary tumor metastasis, Adv Sci (Weinh), 7 Rosen, 2006, BRCA1 regulation of transcription, Cancer Lett, 236, 175, 10.1016/j.canlet.2005.04.037 Pao, 2014, Role of BRCA1 in brain development, Proc Natl Acad Sci U S A, 111, E1240, 10.1073/pnas.1400783111 Smith, 2013, BRCA1 and BRCA2 mutations and female fertility, Curr Opin Obstet Gynecol, 25, 207, 10.1097/GCO.0b013e32835f1731 Li, 2022, Human BRCA pathogenic variants were originated during recent human history, Life Sci Alliance, 5, 10.26508/lsa.202101263 Momozawa, 2018, Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls, Nat Commun, 9, 4083, 10.1038/s41467-018-06581-8 Fernández-Lopez, 2019, Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population, Hum Genomics, 13, 3, 10.1186/s40246-018-0188-9 Dong, 2021, Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population, J Med Genet, 58, 565, 10.1136/jmedgenet-2020-106970 Wen, 2018, Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia, J Med Genet, 55, 97, 10.1136/jmedgenet-2017-104947 Manickam, 2018, Exome sequencing-based screening for BRCA1/2 expected pathogenic variants among adult biobank participants, JAMA Netw Open, 1, 10.1001/jamanetworkopen.2018.2140 Gabai-Kapara, 2014, Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2, Proc Natl Acad Sci U S A, 111, 14205, 10.1073/pnas.1415979111 Hernández, 2014, Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia, Hered Cancer Clin Pract, 12, 11, 10.1186/1897-4287-12-11 Ramus, 2009, The contribution of BRCA1 and BRCA2 to ovarian cancer, Mol Oncol, 3, 138, 10.1016/j.molonc.2009.02.001 Richards, 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, 405, 10.1038/gim.2015.30 Zhang, 2012, Recurrent BRCA1 and BRCA2 mutations in breast cancer patients of African ancestry, Breast Cancer Res Treat, 134, 889, 10.1007/s10549-012-2136-z Villarreal-Garza, 2015, The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer, Breast Cancer Res Treat, 150, 389, 10.1007/s10549-015-3312-8 Rebbeck, 2018, Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations, Hum Mutat, 39, 593, 10.1002/humu.23406 Lilyquist, 2018, Common genetic variation and breast cancer risk-past, present, and future, Cancer Epidemiol Biomarkers Prev, 27, 380, 10.1158/1055-9965.EPI-17-1144 Friebel, 2019, BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry, Hum Mutat, 40, 1781, 10.1002/humu.23804 Bhaskaran, 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, 962, 10.1002/ijc.32176 Ossa Gomez, 2022, Germline pathogenic variant prevalence among latin American and US hispanic individuals undergoing testing for hereditary breast and ovarian cancer: a cross-sectional study, JCO Glob Oncol, 8 Struewing, 1997, The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews, N Engl J Med, 336, 1401, 10.1056/NEJM199705153362001 Bhaskaran, 2021, Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations, J Med Genet, 58, 752, 10.1136/jmedgenet-2020-107299 Ko, 2020, BRCA2 loss-of-function germline mutations are associated with esophageal squamous cell carcinoma risk in Chinese, Int J Cancer, 146, 1042, 10.1002/ijc.32619 Avanesyan, 2020, Gastric cancer in BRCA1 germline mutation carriers: results of endoscopic screening and molecular analysis of tumor tissues, Pathobiology, 87, 367, 10.1159/000511323 Kim, 2022, Clinical implications of BRCA mutations in advanced biliary tract cancer, Oncology Yao, 2022, Ovarian cancer risk of Chinese women with BRCA1/2 germline pathogenic variants, J Hum Genet, 67, 639, 10.1038/s10038-022-01065-6 Kimura, 1963, The mutation load in small populations, Genetics, 48, 1303, 10.1093/genetics/48.10.1303 Lohmueller, 2014, The distribution of deleterious genetic variation in human populations, Curr Opin Genet Dev, 29, 139, 10.1016/j.gde.2014.09.005 Henn, 2015, Estimating the mutation load in human genomes, Nat Rev Genet, 16, 333, 10.1038/nrg3931 Qin, 2022, Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations, Life Sci Alliance, 5, 10.26508/lsa.202101319 Bhaskaran, 2021, Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations, J Med Genet, 58, 752, 10.1136/jmedgenet-2020-107299 Qin, 2022, Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7,500 BRCA variants derived from Asian population, Int J Cancer Inoue, 1994, Linkage analysis of BRCA1 in Japanese breast cancer families, Jpn J Cancer Res, 85, 1233, 10.1111/j.1349-7006.1994.tb02935.x Inoue, 1995, Germline mutation of BRCA1 in Japanese breast cancer families, Cancer Res, 55, 3521 Katagiri, 1996, Mutations in the BRCA1 gene in Japanese breast cancer patients, Hum Mutat, 7, 334, 10.1002/(SICI)1098-1004(1996)7:4<334::AID-HUMU7>3.0.CO;2-8 Fujisawa, 2021, Prevalence of BRCA1 and BRCA2 mutations in Japanese patients with triple-negative breast cancer: a single institute retrospective study, Mol Clin Oncol, 14, 96, 10.3892/mco.2021.2258 Arai, 2021, Hereditary breast and ovarian cancer (HBOC) database in Japan, 243 Hayashi, 2022, Genetic medicine is accelerating in Japan, Breast Cancer, 29, 659, 10.1007/s12282-022-01342-4 Li, 2022, Human BRCA pathogenic variants were originated during recent human history, Life Sci Alliance, 5, 10.26508/lsa.202101263 Friebel, 2019, BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry, Hum Mutat, 40, 1781, 10.1002/humu.23804 Zhang, 2012, Recurrent BRCA1 and BRCA2 mutations in breast cancer patients of African ancestry, Breast Cancer Res Treat, 134, 889, 10.1007/s10549-012-2136-z Donenberg, 2011, A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas, Breast Cancer Res Treat, 125, 591, 10.1007/s10549-010-1156-9 George, 2021, Gene sequencing for pathogenic variants among adults with breast and ovarian cancer in the Caribbean, JAMA Netw Open, 4, 10.1001/jamanetworkopen.2021.0307 Landrum, 2016, ClinVar: public archive of interpretations of clinically relevant variants, Nucleic Acids Res, 44, D862, 10.1093/nar/gkv1222 Cline, 2018, BRCA challenge: BRCA exchange as a global resource for variants in BRCA1 and BRCA2, PLoS Genet, 14, 10.1371/journal.pgen.1007752 Sirugo, 2019, The missing diversity in human genetic studies, Cell, 177, 26, 10.1016/j.cell.2019.02.048 Chen, 2016, Cancer statistics in China, 2015, CA Cancer J Clin, 66, 115, 10.3322/caac.21338 Liu, 1997, Mutational analysis of the BRCA1 tumor suppressor gene in endometrial carcinoma, Gynecol Oncol, 66, 449, 10.1006/gyno.1997.4800 Tang, 1999, Prevalence of mutations in the BRCA1 gene among Chinese patients with breast cancer, J Natl Cancer Inst, 91, 882, 10.1093/jnci/91.10.882 Ding, 2000, BRCA1 gene mutations in early-onset breast cancer, Natl Med J China, 80, 111 Qin, 2021, Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population, J Med Genet, 58, 587, 10.1136/jmedgenet-2020-107181 Zang, 2022, Prevalence of BRCA1 and BRCA2 pathogenic variants in 8627 unselected patients with breast cancer: stratification of age at diagnosis, family history and molecular subtype, Breast Cancer Res Treat, 195, 431, 10.1007/s10549-022-06702-4 Song, 2006, BRCA1 and BRCA2 gene mutations of familial breast cancer from Shanghai in China, Chin J Med Genet, 23, 27 Kim, 2016, Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients, Oncotarget, 7, 9600, 10.18632/oncotarget.7144 Downs, 2019, Common genetic variants contribute to incomplete penetrance: evidence from cancer-free BRCA1 mutation carriers, Eur J Cancer, 107, 68, 10.1016/j.ejca.2018.10.022 Chian, 2021, BRCA1 and BRCA2 variation in Taiwanese general population and the cancer cohort, Front Mol Biosci, 8, 10.3389/fmolb.2021.685174 Sinha, 2020, Classification of VUS and unclassified variants in BRCA1 BRCT repeats by molecular dynamics simulation, Comput Struct Biotechnol J, 18, 723, 10.1016/j.csbj.2020.03.013 Sinha, 2022, Identification of deleterious variants of uncertain significance in BRCA2 BRC4 repeat through molecular dynamics simulations, Brief Funct Genomics, 21, 202, 10.1093/bfgp/elac003 Kwong, 2012, Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis, PLoS ONE, 7, e43994, 10.1371/journal.pone.0043994 Dines, 2020, Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots", Genet Med, 22, 825, 10.1038/s41436-019-0740-6 Thomassen, 2022, Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach, Hum Mutat, 10.1002/humu.24449 Liu, 2020, Microsecond molecular dynamics simulations reveal the allosteric regulatory mechanism of p53 R249S mutation in p53-associated liver cancer, Comput Biol Chem, 84, 10.1016/j.compbiolchem.2019.107194 Salsbury, 2010, Molecular dynamics simulations of protein dynamics and their relevance to drug discovery, Curr Opin Pharmacol, 10, 738, 10.1016/j.coph.2010.09.016 Pantelopulos, 2015, Microsecond simulations of mdm2 and its complex with p53 yield insight into force field accuracy and conformational dynamics, Proteins, 83, 1665, 10.1002/prot.24852