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Variants were annotated with ClinVar and VarSome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 73 out of 664 subjects (11%) had a pathogenic variant in a high or moderate penetrance gene. The most frequently mutated genes were\n                      <jats:italic>BRCA1<\/jats:italic>\n                      (37\/664, 5.6%) followed by\n                      <jats:italic>BRCA2<\/jats:italic>\n                      (15\/664, 2.3%),\n                      <jats:italic>PALB2<\/jats:italic>\n                      (5\/664, 0.8%), and\n                      <jats:italic>TP53<\/jats:italic>\n                      (5\/664, 0.8%). Pathogenic variants were also detected in the moderate penetrance genes\n                      <jats:italic>ATM<\/jats:italic>\n                      ,\n                      <jats:italic>BARD1<\/jats:italic>\n                      ,\n                      <jats:italic>CHEK2<\/jats:italic>\n                      , and\n                      <jats:italic>MSH6<\/jats:italic>\n                      . The high ratio of\n                      <jats:italic>BRCA1<\/jats:italic>\n                      \/\n                      <jats:italic>BRCA2<\/jats:italic>\n                      mutations is due to two potential founder mutations:\n                      <jats:italic>BRCA1 c.212<\/jats:italic>\n                      \u2009+\u2009\n                      <jats:italic>1G<\/jats:italic>\n                      \u2009&gt;\u2009\n                      <jats:italic>A<\/jats:italic>\n                      splice mutation (15 cases) and\n                      <jats:italic>BRCA1 c.799delT<\/jats:italic>\n                      (9 cases). Cases with pathogenic mutations had a significantly earlier age at diagnosis (45 vs 51\u00a0years,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.001), are more likely to have had diagnosis before menopause, and a higher percentage had a relative with any cancer (51% vs 37%,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.038) or breast cancer (33% vs 15%,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.001).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Hereditary breast cancer mutations were observed among Guatemalan women, and these women are more likely to have early age at diagnosis and family history of cancer. These data suggest the use of genetic testing in breast cancer patients and those at high risk as part of a strategy to reduce breast cancer mortality in Guatemala.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10549-021-06305-5","type":"journal-article","created":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T05:03:20Z","timestamp":1625115800000},"page":"533-539","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer"],"prefix":"10.1007","volume":"189","author":[{"given":"Megan","family":"Ren","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anali","family":"Orozco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kang","family":"Shao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anaseidy","family":"Albanez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Ortiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boyang","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lusheng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilian","family":"Barreda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian S.","family":"Alvarez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Garland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongjing","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles C.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiahui","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Frone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Ralon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Argueta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Orozco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Gharzouzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2234-0631","authenticated-orcid":false,"given":"Michael","family":"Dean","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,1]]},"reference":[{"issue":"6","key":"6305_CR1","doi-asserted-by":"crossref","first-page":"394","DOI":"10.3322\/caac.21492","volume":"68","author":"F Bray","year":"2018","unstructured":"Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A (2018) Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. 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