{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T20:17:27Z","timestamp":1790194647577,"version":"4.1.0"},"reference-count":36,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2018,1,22]],"date-time":"2018-01-22T00:00:00Z","timestamp":1516579200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2018,2,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      The role of deep intronic variants in hereditary cancer susceptibility has been largely understudied. Previously, the\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      c.6937\u2009+\u2009594T&gt;G variant has been shown to preferentially promote the inclusion of a 95 nucleotide cryptic exon and to introduce a premature termination codon. Our objective was to further assess the pathogenicity of the\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      c.6937\u2009+\u2009594T&gt;G deep intronic variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients and Methods:<\/jats:title>\n                    <jats:p>\n                      We examined the association between\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      c.6937\u2009+\u2009594T&gt;G and breast cancer (BC) risk in 464 BC cases and 497 noncancer controls from Puerto Rico.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The overall frequency of the G allele was 2.1% in this population. There was no association between the TG\/GG genotypes and BC risk in the uncorrected model and after correcting for confounders. There was only one carrier of the GG genotype. This individual did not have personal or family history of cancer and did not meet the National Comprehensive Cancer Network criteria for hereditary cancer genetic testing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Although previous work has demonstrated that the\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      c.6937\u2009+\u2009594T&gt;G variant affects splicing, this association study does not support a pathogenic role for the\n                      <jats:italic toggle=\"yes\">BRCA2<\/jats:italic>\n                      c.6937\u2009+\u2009594T&gt;G intronic variant in breast and ovarian cancer syndrome susceptibility. Furthermore, it emphasizes the need to take into account multiple diverse populations in association studies for the assessment of variant pathogenicity.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/gtmb.2017.0187","type":"journal-article","created":{"date-parts":[[2018,1,22]],"date-time":"2018-01-22T15:47:34Z","timestamp":1516636054000},"page":"85-89","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["No Evidence for the Pathogenicity of the\n                    <i>BRCA2<\/i>\n                    c.6937\u2009+\u2009594T&gt;G Deep Intronic Variant: A Case-Control Analysis"],"prefix":"10.1177","volume":"22","author":[{"given":"Julie","family":"Dutil","sequence":"first","affiliation":[{"name":"Ponce Health Sciences University","place":["Puerto Rico"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenin","family":"Godoy","sequence":"additional","affiliation":[{"name":"Ponce Health Sciences University","place":["Puerto Rico"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Rivera-Lugo","sequence":"additional","affiliation":[{"name":"University of Puerto Rico in Ponce","place":["Puerto Rico"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelly","family":"Arroyo","sequence":"additional","affiliation":[{"name":"Ponce Health Sciences University","place":["Puerto Rico"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elinette","family":"Albino","sequence":"additional","affiliation":[{"name":"Ponce Health Sciences University","place":["Puerto Rico"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Negr\u00f3n","sequence":"additional","affiliation":[{"name":"VA Caribbean Healthcare System","place":["Puerto Rico"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvaro N.","family":"Monteiro","sequence":"additional","affiliation":[{"name":"H. 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