{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T13:24:35Z","timestamp":1792243475539,"version":"4.4.0"},"reference-count":79,"publisher":"American Society of Clinical Oncology (ASCO)","issue":"8","content-domain":{"domain":["ascopubs.org"],"crossmark-restriction":true},"short-container-title":["JCO Global Oncology"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:sec><jats:title>PURPOSE<\/jats:title><jats:p> To report on pathogenic germline variants detected among individuals undergoing genetic testing for hereditary breast and\/or ovarian cancer (HBOC) from Latin America and compare them with self-reported Hispanic individuals from the United States. <\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p> In this cross-sectional study, unrelated individuals with a personal\/family history suggestive of HBOC who received clinician-ordered germline multigene sequencing were grouped according to the location of the ordering physician: group A, Mexico, Central America, and the Caribbean; group B, South America; and group C, United States with individuals who self-reported Hispanic ethnicity. Relatives who underwent cascade testing were analyzed separately. <\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p> Among 24,075 unrelated probands across all regions, most were female (94.9%) and reported a personal history suggestive of HBOC (range, 65.0%-80.6%); the mean age at testing was 49.1 \u00b1 13.1 years. The average number of genes analyzed per patient was highest in group A (A 63 \u00b1 28, B 56 \u00b1 29, and C 40 \u00b1 28). Between 9.1% and 18.7% of patients had pathogenic germline variants in HBOC genes (highest yield in group A), with the majority associated with high HBOC risk. Compared with US Hispanics individuals the overall yield was significantly higher in both Latin American regions (A v C P = 1.64\u00d710<jats:sup>\u20139<\/jats:sup>, B v C P &lt; 2.2\u00d710<jats:sup>\u201316<\/jats:sup>). Rates of variants of uncertain significance were similar across all three regions (33.7%-42.6%). Cascade testing uptake was low in all regions (A 6.6%, B 4.5%, and C 1.9%). <\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p> This study highlights the importance of multigene panel testing in Latin American individuals with newly diagnosed or history of HBOC, who can benefit from medical management changes including targeted therapies, eligibility to clinical trials, risk-reducing surgeries, surveillance and prevention of secondary malignancy, and genetic counseling and subsequent cascade testing of at-risk relatives. <\/jats:p><\/jats:sec>","DOI":"10.1200\/go.22.00104","type":"journal-article","created":{"date-parts":[[2022,7,22]],"date-time":"2022-07-22T19:59:32Z","timestamp":1658519972000},"update-policy":"https:\/\/doi.org\/10.1200\/crossmark","source":"Crossref","is-referenced-by-count":11,"title":["Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study"],"prefix":"10.1200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1574-5155","authenticated-orcid":false,"given":"Carlos Andr\u00e9s","family":"Ossa Gomez","sequence":"first","affiliation":[{"name":"Hospital Universitario General de Medell\u00edn, Medell\u00edn, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6894-1219","authenticated-orcid":false,"given":"Maria Isabel","family":"Achatz","sequence":"additional","affiliation":[{"name":"Department of Oncology, Hospital S\u00edrio-Liban\u00eas, Bras\u00edlia, Distrito Federal, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mabel","family":"Hurtado","sequence":"additional","affiliation":[{"name":"Instituto Oncol\u00f3gico, Fundaci\u00f3n Arturo L\u00f3pez P\u00e9rez, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7946-2026","authenticated-orcid":false,"given":"Mar\u00eda Carolina","family":"Sanabria-Salas","sequence":"additional","affiliation":[{"name":"Subdirecci\u00f3n de Investigaciones\u2014Instituto Nacional de Cancerolog\u00eda, Bogot\u00e1, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2621-3499","authenticated-orcid":false,"given":"Yasser","family":"Sullcahuaman","sequence":"additional","affiliation":[{"name":"Universidad Peruana de Ciencias Aplicadas, Lima, Peru"},{"name":"Instituto de Investigaci\u00f3n Genomica, Lima, Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanin","family":"Ch\u00e1varri-Guerra","sequence":"additional","affiliation":[{"name":"Department of Hemato-Oncology, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n, Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Dutil","sequence":"additional","affiliation":[{"name":"Cancer Biology Division, Ponce Research Institute, Ponce Health Sciences University, Pone, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah M.","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9205-3756","authenticated-orcid":false,"given":"Edward D.","family":"Esplin","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8712-7391","authenticated-orcid":false,"given":"Scott T.","family":"Michalski","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1173-4718","authenticated-orcid":false,"given":"Sara L.","family":"Bristow","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0849-7018","authenticated-orcid":false,"given":"Kathryn E.","family":"Hatchell","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3445-8880","authenticated-orcid":false,"given":"Robert L.","family":"Nussbaum","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel E.","family":"Pineda-Alvarez","sequence":"additional","affiliation":[{"name":"Invitae, San Francisco, CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5093-4739","authenticated-orcid":false,"given":"Patricia","family":"Ashton-Prolla","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil"},{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica e Laborat\u00f3rio de Medicina Gen\u00f4mica, Centro de Pesquisa Experimental, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"233","reference":[{"key":"b1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djj465"},{"key":"b2","doi-asserted-by":"publisher","DOI":"10.1097\/GCO.0b013e328332dca3"},{"key":"b3","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-013-9616-0"},{"key":"b4","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.18.01631"},{"key":"b5","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2020.6252"},{"key":"b6","author":"Nielsen SM","journal-title":"JCO Precis Oncol"},{"key":"b7","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(15)00218-1"},{"key":"b8","first-page":"94","volume":"69","author":"Chavarri-Guerra Y","year":"2017","journal-title":"Rev Invest Clin"},{"key":"b9","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-016-0051-x"},{"key":"b10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23406"},{"key":"b11","doi-asserted-by":"publisher","DOI":"10.1353\/hub.2004.0058"},{"key":"b12","volume-title":"The Evolution and Genetics of Latin American Populations","author":"Salzano FM","year":"2005"},{"key":"b13","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000037"},{"key":"b14","doi-asserted-by":"publisher","DOI":"10.1002\/ajpa.21270"},{"key":"b15","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0914618107"},{"key":"b16","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0017063"},{"key":"b17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004572"},{"key":"b18","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1504447112"},{"key":"b19","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-006-9370-1"},{"key":"b20","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-010-1170-y"},{"key":"b21","doi-asserted-by":"publisher","DOI":"10.1186\/2193-1801-1-20"},{"key":"b22","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2011.41.0027"},{"key":"b23","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0057581"},{"key":"b24","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2014.12"},{"key":"b25","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.29058"},{"key":"b26","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12505"},{"key":"b27","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-015-3629-3"},{"key":"b28","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.12610"},{"key":"b29","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-016-2966-x"},{"key":"b30","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2016.06.008"},{"key":"b31","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.10814"},{"key":"b32","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0187630"},{"key":"b33","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-27315-2"},{"key":"b34","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-018-4938-0"},{"key":"b35","doi-asserted-by":"publisher","DOI":"10.3390\/cancers10110419"},{"key":"b36","doi-asserted-by":"publisher","DOI":"10.1038\/s41523-021-00317-6"},{"key":"b37","doi-asserted-by":"publisher","DOI":"10.1158\/1055-9965.EPI-05-0072"},{"key":"b38","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-05056-y"},{"key":"b39","doi-asserted-by":"publisher","DOI":"10.1590\/S1415-47572014000200009"},{"key":"b40","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0222709"},{"key":"b41","doi-asserted-by":"publisher","DOI":"10.1007\/s10350-007-9044-z"},{"key":"b42","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2005.12.039"},{"key":"b43","doi-asserted-by":"publisher","DOI":"10.1186\/1897-4287-11-18"},{"key":"b44","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-55"},{"key":"b45","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-017-0004-z"},{"key":"b46","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00161"},{"key":"b47","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0247363"},{"key":"b48","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.96"},{"key":"b49","doi-asserted-by":"publisher","DOI":"10.1007\/s11606-020-06064-x"},{"key":"b50","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2015.04.009"},{"key":"b51","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0033-5"},{"key":"b52","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2018.10.009"},{"key":"b53","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.37"},{"key":"b54","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"b55","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2021.0001"},{"key":"b56","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.24200"},{"key":"b57","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-010-1156-9"},{"key":"b58","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12132"},{"key":"b59","doi-asserted-by":"publisher","DOI":"10.1007\/s12282-020-01165-1"},{"key":"b60","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2019.01429"},{"key":"b61","doi-asserted-by":"publisher","DOI":"10.3390\/cancers12113254"},{"key":"b62","doi-asserted-by":"publisher","DOI":"10.1158\/1538-7445.AM2020-1211"},{"key":"b63","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6605966"},{"key":"b64","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.309"},{"key":"b65","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-008-0042-1"},{"key":"b66","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-010-0801-7"},{"key":"b67","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-012-1965-0"},{"key":"b68","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.26506"},{"key":"b69","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.33357"},{"key":"b70","doi-asserted-by":"publisher","DOI":"10.2217\/cer-2020-0192"},{"key":"b71","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2018.13152"},{"key":"b72","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.26501"},{"key":"b73","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2105215"},{"key":"b74","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.231"},{"key":"b75","doi-asserted-by":"publisher","DOI":"10.1377\/hlthaff.2017.1630"},{"key":"b76","doi-asserted-by":"publisher","DOI":"10.1159\/000496495"},{"key":"b77","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.19.02005"},{"key":"b78","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.20.00140"},{"key":"b79","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31866"}],"container-title":["JCO Global Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ascopubs.org\/doi\/pdfdirect\/10.1200\/GO.22.00104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,22]],"date-time":"2022-07-22T19:59:38Z","timestamp":1658519978000},"score":1,"resource":{"primary":{"URL":"https:\/\/ascopubs.org\/doi\/10.1200\/GO.22.00104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":79,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1200\/GO.22.00104"],"URL":"https:\/\/doi.org\/10.1200\/go.22.00104","relation":{},"ISSN":["2687-8941"],"issn-type":[{"value":"2687-8941","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7]]},"assertion":[{"value":"2022-03-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-13","order":1,"name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-15","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2200104"}}