{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:20Z","timestamp":1753869740929,"version":"3.41.2"},"reference-count":29,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T00:00:00Z","timestamp":1666915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> gene mutations are responsible for 5% of breast cancer (BC) and 10\u201315% of ovarian cancer (EOC). The presence of a germline mutation and therefore the identification of subjects at high risk of developing cancer should ideally precede the onset of the disease, so that appropriate surveillance and risk\u2010reducing treatments can be proposed. In this study, we revisited the family history (FH) of women who tested positive for <jats:italic>BRCA<\/jats:italic> mutations after being diagnosed with BC or EOC.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology (NCCN Guidelines\u00ae), and the Italian Association of Medical Oncology (AIOM) guidelines were applied to the FH of 157 women who were referred to San Gerardo Hospital for genetic counseling.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Almost 85% of women had an FH of <jats:italic>BRCA<\/jats:italic>\u2010related cancer. 63.7% and 52.2% of women could have undergone genetic testing according to NCCN and AIOM testing criteria (<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.05) before tumor diagnosis. An FH of EOC was the most frequent NCCN criterion, followed by BC diagnosed &lt;45\u2009years old. Sixty\u2010five percent of deceased women could have undergone genetic testing before developing cancer.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>FH is a powerful tool to identify high\u2010risk individuals eligible for genetic counseling and testing. Testing of healthy individuals should be considered when an appropriately affected family member is unavailable for testing.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2071","type":"journal-article","created":{"date-parts":[[2022,10,29]],"date-time":"2022-10-29T05:40:35Z","timestamp":1667022035000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy"],"prefix":"10.1002","volume":"10","author":[{"given":"Serena","family":"Negri","sequence":"first","affiliation":[{"name":"Clinic of Obstetrics and Gynecology, Department of Medicine and Surgery University of Milan\u2010Bicocca  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"De Ponti","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine ASST Monza, San Gerardo Hospital  Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica Paola","family":"Sina","sequence":"additional","affiliation":[{"name":"UOC Gynecologic Surgery ASST Monza, San Gerardo Hospital  Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Sala","sequence":"additional","affiliation":[{"name":"UO Medical Genetics ASST Monza, San Gerardo Hospital  Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Dell'Oro","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynecology, Department of Medicine and Surgery University of Milan\u2010Bicocca  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaia","family":"Roversi","sequence":"additional","affiliation":[{"name":"UO Medical Genetics ASST Monza, San Gerardo Hospital  Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Lazzarin","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynecology, Department of Medicine and Surgery University of Milan\u2010Bicocca  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Delle Marchette","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynecology, Department of Medicine and Surgery University of Milan\u2010Bicocca  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7532-3267","authenticated-orcid":false,"given":"Alesssandra","family":"Inzoli","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynecology, Department of Medicine and Surgery University of Milan\u2010Bicocca  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Toso","sequence":"additional","affiliation":[{"name":"UOC Gestione Sanitaria delle Convenzioni ATS Brianza  Lecco Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"Fumagalli","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynecology, Department of Medicine and Surgery University of Milan\u2010Bicocca  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Campanella","sequence":"additional","affiliation":[{"name":"aBRCAdabra ONLUS  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanne","family":"Kotsopoulos","sequence":"additional","affiliation":[{"name":"Women's College Research Institute Women's College Hospital  Toronto Ontario Canada"},{"name":"Dalla Lana School of Public Health University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5688-2194","authenticated-orcid":false,"given":"Robert","family":"Fruscio","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynecology, Department of Medicine and Surgery University of Milan\u2010Bicocca  Milan Italy"},{"name":"UOC Gynecologic Surgery ASST Monza, San Gerardo Hospital  Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,10,28]]},"reference":[{"key":"e_1_2_12_2_1","unstructured":"AIOM.https:\/\/www.aiom.it\/wp\u2010content\/uploads\/2021\/07\/2021_Racc_testBRCA_predittivo\u2010preventivo.pdf"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2011.39.8545"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/375033"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(21)00531-3"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amepre.2010.09.027"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21492"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2017.73.6314"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.30676"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2021.0001"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-63759-1"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygyno.2015.04.029"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.2147\/CMAR.S189627"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1415979111"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12885\u2010017\u20103422\u20102"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1148\/rg.2017160144"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djx265"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ypmed.2013.06.022"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1472\u20106963\u201014\u2010239"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.29041"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.2147\/IJWH.S197604"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687\u2010010\u20100030\u20100"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1200\/EDBK_238977"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/IGC.0b013e318280f2b4"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.5985"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v27.i17.1943"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/cam4.2000"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.3322\/caac.21660"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010018\u20100111\u20109"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1369\/0022155411428469"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2071","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.2071","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2071","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T06:11:41Z","timestamp":1692684701000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2071"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,28]]},"references-count":29,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1002\/mgg3.2071"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2071","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2022,10,28]]},"assertion":[{"value":"2022-02-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2071"}}