{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T23:37:47Z","timestamp":1784763467482,"version":"3.55.0"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,2,18]],"date-time":"2021-02-18T00:00:00Z","timestamp":1613606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Prostate"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations of the <jats:italic>BRCA2<\/jats:italic> gene are the most frequent alterations found in germline DNA from men with prostate cancer (PrCa), but clinical parameters that could better orientate for <jats:italic>BRCA2<\/jats:italic> mutation screening need to be established.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Germline DNA from 325 PrCa patients (median age at diagnosis: 57 years old) was screened for <jats:italic>BRCA2<\/jats:italic> mutation. The mutation frequency was compared between three subgroups: patients with an age at diagnosis at 55 years old and under (Group I); a personal or family history of breast, uterine or ovarian cancer (Group II); or a metastatic disease (Group III). Frequency of <jats:italic>BRCA2<\/jats:italic> mutations was established for each combination of phenotypes, and compared between patients meeting or not the criteria for each subgroup using Fisher's exact test. Mutual information, direct effect, elasticity and contribution to the mutational status of each phenotype, taking into account overlap between subgroups, were also estimated using Bayesian algorithms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proportion of <jats:italic>BRCA2<\/jats:italic> mutation was 5.9% in Group I, 10.9% in Group II and 6.9% in Group III. The frequency of <jats:italic>BRCA2<\/jats:italic> mutation was significantly higher among patients of Group II (<jats:italic>p<\/jats:italic>\u2009=\u2009.006), and reached 15.6% among patients of this group who presented a metastatic disease. Mutual information, direct effect, elasticity and contribution to the mutational status were the highest for phenotype II. Fifteen (71.4%) of the 21 <jats:italic>BRCA2<\/jats:italic> mutation carriers had an aggressive form of the disease. Four (19%) of them died from PrCa after a median follow\u2010up duration of 64.5 months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our results showed that a higher frequency of <jats:italic>BRCA2<\/jats:italic> mutation carriers is observed, not only among PrCa patients with young onset or a metastatic disease, but also with a personal or a familial history of breast cancer.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pros.24109","type":"journal-article","created":{"date-parts":[[2021,2,20]],"date-time":"2021-02-20T19:16:04Z","timestamp":1613848564000},"page":"318-325","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Bayesian predictive model to assess BRCA2 mutational status according to clinical history: Early onset, metastatic phenotype or family history of breast\/ovary cancer"],"prefix":"10.1002","volume":"81","author":[{"given":"Priscilla","family":"Leon","sequence":"first","affiliation":[{"name":"Department of Urology Clinique Pasteur Royan France"},{"name":"GRC n\u00b05 Predictive Onco\u2010Urology, Tenon Hospital, AP\u2010HP Sorbonne University Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9583-6382","authenticated-orcid":false,"given":"Geraldine","family":"Cancel\u2010Tassin","sequence":"additional","affiliation":[{"name":"GRC n\u00b05 Predictive Onco\u2010Urology, Tenon Hospital, AP\u2010HP Sorbonne University Paris France"},{"name":"CeRePP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violaine","family":"Bourdon","sequence":"additional","affiliation":[{"name":"Department of Prevention and Screening Genetic Oncology Institut Paoli\u2010Calmettes Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Buecher","sequence":"additional","affiliation":[{"name":"Department of Genetics Institut Curie Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephane","family":"Oudard","sequence":"additional","affiliation":[{"name":"Department of Oncology Unit Georges Pompidou European Hospital, APHP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Brureau","sequence":"additional","affiliation":[{"name":"Department of Urology Pointe\u2010\u00e0\u2010Pitre\/Abymes University Hospital Pointe a Pitre Guadeloupe"},{"name":"UMR_S 1085, EHESP, Research Institute in Health Environment and Work (IRSET), Inserm Pointe\u2010\u00e0\u2010Pitre Guadeloupe"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionel","family":"Jouffe","sequence":"additional","affiliation":[{"name":"Bayesia SAS Chang\u00e9 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Blanchet","sequence":"additional","affiliation":[{"name":"Department of Urology Pointe\u2010\u00e0\u2010Pitre\/Abymes University Hospital Pointe a Pitre Guadeloupe"},{"name":"UMR_S 1085, EHESP, Research Institute in Health Environment and Work (IRSET), Inserm Pointe\u2010\u00e0\u2010Pitre Guadeloupe"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Stoppa\u2010Lyonnet","sequence":"additional","affiliation":[{"name":"Department of Genetics Institut Curie Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Coulet","sequence":"additional","affiliation":[{"name":"Department of Genetics,\u00a0Oncogenetics Consulting, Oncogenetics Functional Unit Groupe Hospitalier Piti\u00e9\u2010Salp\u00eatri\u00e8re APHP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hagay","family":"Sobol","sequence":"additional","affiliation":[{"name":"Department of Prevention and Screening Genetic Oncology Institut Paoli\u2010Calmettes Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Cussenot","sequence":"additional","affiliation":[{"name":"GRC n\u00b05 Predictive Onco\u2010Urology, Tenon Hospital, AP\u2010HP Sorbonne University Paris France"},{"name":"CeRePP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,2,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1590\/1678-4685-gmb-2018-0104"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2017.7112"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/91.15.1310"},{"key":"e_1_2_9_5_1","first-page":"4513","article-title":"The frequency of germ\u2010line mutations in the breast cancer predisposition genes BRCA1 and BRCA2 in familial prostate cancer. 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