{"id":113646,"date":"2025-05-19T06:21:10","date_gmt":"2025-05-19T06:21:10","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/113646\/"},"modified":"2025-05-19T06:21:10","modified_gmt":"2025-05-19T06:21:10","slug":"acmg-secondary-findings-in-the-brazilian-rare-genomes-project-insights-from-5402-genome-sequencing","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/113646\/","title":{"rendered":"ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing"},"content":{"rendered":"
  • \n

    Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15:565\u201374. https:\/\/doi.org\/10.1038\/gim.2013.73<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, et al. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25:100866. https:\/\/doi.org\/10.1016\/j.gim.2023.100866<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Elfatih A, Saad C, The Qatar Genome Program Research Consortium, Qatar Genome Project Management, Ismail S, Al-Muftah W, et al. Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants. Eur J Hum Genet. 2024;32:1465\u201373. https:\/\/doi.org\/10.1038\/s41431-024-01656-1<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Gordon AS, Zouk H, Venner E, Eng CM, Funke BH, Amendola LM, et al. Frequency of genomic secondary findings among 21,915 eMERGE network participants. Genet Med. 2020;22:1470\u20137. https:\/\/doi.org\/10.1038\/s41436-020-0810-9<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Saeidian AH, March ME, Youssefian L, Watson DJ, Bhandari E, Wang X, et al. Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants. Genet Med. 2024;26:101225. https:\/\/doi.org\/10.1016\/j.gim.2024.101225<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Quaio CRDC, Moreira CM, Novo-Filho GM, Sacramento-Bobotis PR, Groenner Penna M, Perazzio SF, et al. Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases. Am J Med Genet C Semin Med Genet. 2020;184:955\u201364. https:\/\/doi.org\/10.1002\/ajmg.c.31860<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Naslavsky MS, Yamamoto GL, Almeida TF, Ezquina SAM, Sunaga DY, Pho N, et al. Exomic variants of an elderly cohort of Brazilians in the ABraOM database. Hum Mutat. 2017;38:751\u201363. https:\/\/doi.org\/10.1002\/humu.23220<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Naslavsky MS, Scliar MO, Yamamoto GL, Wang JYT, Zverinova S, Karp T, et al. Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil. Nat Commun. 2022;13. https:\/\/doi.org\/10.1038\/s41467-022-28648-3<\/a><\/p>\n<\/li>\n

  • \n

    Coelho AVC, Mascaro-Cordeiro B, Lucon DR, N\u00f3brega MS, Reis RS, de Alexandre RB, et al. The Brazilian Rare Genomes Project: Validation of whole genome sequencing for rare diseases diagnosis. Front Mol Biosci. 2022;9. https:\/\/doi.org\/10.3389\/fmolb.2022.821582<\/a><\/p>\n<\/li>\n

  • \n

    den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, et al. HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat. 2016;37:564\u20139. https:\/\/doi.org\/10.1002\/humu.22981<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    McGowan-Jordan J, Hastings RJ, Moore S. ISCN 2020: an international system for human cytogenomic nomenclature. Cytogenetic Genome Res. 2020:160;7\u20138.<\/p>\n<\/li>\n

  • \n

    Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 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. 2015;17:405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen. Genet Med. 2020;22:245\u201357. https:\/\/doi.org\/10.1038\/s41436-019-0686-8<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19:249\u201355. https:\/\/doi.org\/10.1038\/gim.2016.190<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Miller DT, Lee K, Chung WK, Gordon AS, Herman GE, Klein TE, et al. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23:1381\u201390. https:\/\/doi.org\/10.1038\/s41436-021-01172-3<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, et al. ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022;24:1407\u201314. https:\/\/doi.org\/10.1016\/j.gim.2022.04.006<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Nolan J, Buchanan J, Taylor J, Almeida J, Bedenham T, Blair E, et al. Secondary (additional) findings from the 100,000 Genomes Project: disease manifestation, health care outcomes, and costs of disclosure. Genet Med. 2024;26:101051. https:\/\/doi.org\/10.1016\/j.gim.2023.101051<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Kim Y, Kim J-M, Cho H-W, Park H-Y, Park M-H. Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study. Hum Genet. 2023;142:1561\u20139. https:\/\/doi.org\/10.1007\/s00439-023-02592-8<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Aloraini T, Alsubaie L, Alasker S, Al Muitiri A, Alswaid A, Eyiad W, et al. The rate of secondary genomic findings in the Saudi population. Am J Med Genet A. 2022;188:83\u201388. https:\/\/doi.org\/10.1002\/ajmg.a.62491<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Johnston JJ, Brennan M-L, Radenbaugh B, Yoo SJ, Hernandez SM, NHGRI Reverse Phenotyping Core, et al. The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort. Genet Med. 2022;24:736\u201343. https:\/\/doi.org\/10.1016\/j.gim.2021.11.012<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Yamashita T, Hamidi Asl K, Yazaki M, Benson MD. A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population. Amyloid. 2005;12:127\u201330. https:\/\/doi.org\/10.1080\/13506120500107162<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Censo 2022. Gov.br. 2022. https:\/\/www.ibge.gov.br\/estatisticas\/sociais\/trabalho\/22827-censo-demografico-2022.html<\/a>. Accessed 28 Jan2025.<\/p>\n<\/li>\n

  • \n

    Skrahin A, Cheema HA, Hussain M, Rana NN, Rehman KU, Kumar R, et al. Secondary findings in a large Pakistani cohort tested with whole genome sequencing. Life Sci Alliance. 2023;6:e202201673. https:\/\/doi.org\/10.26508\/lsa.202201673<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, Le Calvez-Kelm F, et al. Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Hum Mutat. 2010;31:143\u201350. https:\/\/doi.org\/10.1002\/humu.21151<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Corr\u00eaa TS, Asprino PF, de Oliveira ESC, Leite ACR, Weis L, Achatz MI, et al. TP53 p.R337H germline variant among women at risk of hereditary breast cancer in a public health system of Midwest Brazil. Genes. 2024;15:928 https:\/\/doi.org\/10.3390\/genes15070928<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Hunter JE, Jenkins CL, Bulkley JE, Gilmore MJ, Lee K, Pak CM, et al. ClinGen\u2019s Pediatric Actionability Working Group: clinical actionability of secondary findings from genome-scale sequencing in children and adolescents. Genet Med. 2022;24:1328\u201335. https:\/\/doi.org\/10.1016\/j.gim.2022.02.019<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Virgens CSDAS. Variantes gen\u00e9ticas nos genes BRCA1 e BRCA2 em uma popula\u00e7\u00e3o da Bahia. Ufba.br. 2023. https:\/\/biologia.ufba.br\/sites\/biologia.ufba.br\/files\/tcc_final_-_cleiton_santos_das_virgens_.pdf<\/a>. Accessed 28 Jan 2025.<\/p>\n<\/li>\n

  • \n

    Palmero EI, Carraro DM, Alemar B, Moreira MAM, Ribeiro-Dos-Santos \u00c2, Abe-Sandes K, et al. The germline mutational landscape of BRCA1 and BRCA2 in Brazil. Sci Rep. 2018;8:9188. https:\/\/doi.org\/10.1038\/s41598-018-27315-2<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Mazzonetto P, Milanezi F, D\u2019Andrea M, Martins S, Monfredini PM, Dos Santos Silva J, et al. BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil. Breast Cancer Res Treat. 2023;199:127\u201336. https:\/\/doi.org\/10.1007\/s10549-023-06892-5<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    de Oliveira JM, Zurro NB, Coelho AVC, Caraciolo MP, de Alexandre RB, Cervato MC, et al. The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients. Eur J Hum Genet. 2022;30:818\u201323. https:\/\/doi.org\/10.1038\/s41431-022-01098-7<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Rodr\u00edguez-Salgado LE, Silva-Aldana CT, Medina-M\u00e9ndez E, Bare\u00f1o-Silva J, Arcos-Burgos M, Silgado-Guzm\u00e1n DF, et al. Frequency of actionable Exomic secondary findings in 160 Colombian patients: Impact in the healthcare system. Gene. 2022;838:146699. https:\/\/doi.org\/10.1016\/j.gene.2022.146699<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Aarabi M, Darabi H, Bashar A, Bellissimo D, Rajkovic A, Yatsenko SA. Copy-number variants in the ACMG secondary finding genes: a reporting framework for clinical cytogeneticists. Genet Med Open. 2024;2:101839. https:\/\/doi.org\/10.1016\/j.gimo.2024.101839<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Yatsenko SA, Aarabi M, Hu J, Surti U, Ortiz D, Madan-Khetarpal S, et al. Copy number alterations involving 59 ACMG-recommended secondary findings genes. Clin Genet. 2020;98:577\u201388. https:\/\/doi.org\/10.1111\/cge.13852<\/a>.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n","protected":false},"excerpt":{"rendered":"Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting…\n","protected":false},"author":2,"featured_media":113647,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[17907,3972,19391,267,10441,3969,10564,19314,70,16,15],"class_list":{"0":"post-113646","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-gene-expression","9":"tag-gene-function","10":"tag-gene-therapy","11":"tag-genetics","12":"tag-genetics-research","13":"tag-human-genetics","14":"tag-medical-genetics","15":"tag-molecular-medicine","16":"tag-science","17":"tag-uk","18":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/114533058710635201","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/113646","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=113646"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/113646\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/113647"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=113646"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=113646"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=113646"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}