{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:23:12Z","timestamp":1772119392797,"version":"3.50.1"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"13","license":[{"start":{"date-parts":[[2023,6,22]],"date-time":"2023-06-22T00:00:00Z","timestamp":1687392000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,6,22]],"date-time":"2023-06-22T00:00:00Z","timestamp":1687392000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100006752","name":"Universidade do Porto","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006752","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Cancer Res Clin Oncol"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Men born with pathogenic\/likely pathogenic variants in genes associated with the Hereditary Breast and Ovarian Cancer Syndrome have a higher risk to develop breast cancer and other cancers (such as prostate cancer) and should undergo adequate surveillance protocols in highly specialized Centers.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective study was conducted to assess these genetic variants\u2019 epidemiological and phenotypical manifestations in male carriers, as well as the efficacy of the surveillance protocol and compliance toward it through a survey. During follow-up, a genetic panel for testing was implemented, the starting age for surveillance was delayed, and the six-month screening interval was extended to annual.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 104 men from a tertiary hospital\u2019s High-Risk Consultation were included, 102 with positive genetic testing for\n                      <jats:italic>BRCA1<\/jats:italic>\n                      (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200931),\n                      <jats:italic>BRCA2<\/jats:italic>\n                      (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200955), both\n                      <jats:italic>BRCA2<\/jats:italic>\n                      and another gene (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20095),\n                      <jats:italic>CDH1<\/jats:italic>\n                      (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20092),\n                      <jats:italic>CHEK2<\/jats:italic>\n                      (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20094),\n                      <jats:italic>NF1<\/jats:italic>\n                      (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091),\n                      <jats:italic>RAD51C<\/jats:italic>\n                      (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20094), and an additional two men with no actionable genetic variant identified. The follow-up period ranged from 1 to 13\u00a0years, and only one man developed cancer. Survey responses from 48 men in active surveillance showed that more than half recognizes their carrier status and consequent surveillance impact on their life, including the risk of transmission to offspring, fear of future cancer, meaningful distress, and feeling of injustice. Biannual surveillance was not actively detecting more cancer disease cases, confirming the adequacy of the currently implemented protocol\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>With support of Genetics to fulfill the current gaps in high-risk management, the proposed redefinition of surveillance protocol would adapt it to the population needs and concerns.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00432-023-04994-7","type":"journal-article","created":{"date-parts":[[2023,6,22]],"date-time":"2023-06-22T07:02:09Z","timestamp":1687417329000},"page":"11145-11156","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A comprehensive study on surveillance outcomes of a male population followed at a hereditary breast cancer high-risk consultation at a Portuguese tertiary hospital"],"prefix":"10.1007","volume":"149","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-6170-2635","authenticated-orcid":false,"given":"Maria Jo\u00e3o","family":"Oliveira","sequence":"first","affiliation":[]},{"given":"Susy","family":"Costa","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6249-7962","authenticated-orcid":false,"given":"Andr\u00e9","family":"Magalh\u00e3es","sequence":"additional","affiliation":[]},{"given":"Luzia","family":"Garrido","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0579-9988","authenticated-orcid":false,"given":"B\u00e1rbara","family":"Peleteiro","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1861-8178","authenticated-orcid":false,"given":"Jos\u00e9 Lu\u00eds","family":"Fougo","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0582-5178","authenticated-orcid":false,"given":"S\u00e9rgio","family":"Castedo","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2023,6,22]]},"reference":[{"issue":"4","key":"4994_CR1","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1053\/j.seminoncol.2017.11.002","volume":"44","author":"AJ Abdelwahab Yousef","year":"2017","unstructured":"Abdelwahab Yousef AJ (2017) Male breast cancer: epidemiology and risk factors. 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Approval was granted by the institutional Ethics Committee of Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o (CES-CHUSJ\/FMUP, No 304\/22).","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The retrospective nature of the analysis supported the informed consent waiver, for the sake of feasibility. This research ensured the privacy of patient data, since any sort of personal information that allows identification was not used or shown in the database built. Participation in the survey predicted tacit informed consent when answering the questions.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}}]}}