000086497 001__ 86497
000086497 005__ 20200221144346.0
000086497 0247_ $$2doi$$a10.1093/annonc/mdw364.32
000086497 0248_ $$2sideral$$a106290
000086497 037__ $$aART-2016-106290
000086497 041__ $$aeng
000086497 100__ $$aAdrover, E.
000086497 245__ $$aFamosa: Evaluation of a multigene panel in patients with suspected HBOC
000086497 260__ $$c2016
000086497 5060_ $$aAccess copy available to the general public$$fUnrestricted
000086497 5203_ $$aBackground: Objectives: Characterize 1) the frequency of mutations in patients with clinical criteria for HBOC using a 25-gene panel in a Spanish population (FAMOSA study). 2) The psychological impact of these tests and patient''s counseling preferences.
Methods: Patients with breast or ovarian cancer who met the NCCN criteria for genetic testing with a) prior testing for BRCA genes with NO mutation identified; or b) recently diagnosed (<6 months) and not genetically tested, were enrolled for multiplex cancer testing (MyRisk 25-gene panel). Participants completed self-questionnaires regarding geneting counseling preferences and three psychological scales (MICRA, CWS, R-IES) at base-line, one week, three and twelve months after results disclosure.
Results: From November 14 to February 15, 210 patients were included in the FAMOSA study (109 HBOC). 61 (56%) patients were previously tested for BRCA1/2 gene mutations with conventional techniques; median age: 44y (22-77); gender: 3 males / 106 females; cancer types: breast 95 (87%); ovary 14 (13%). Overall 22 pathogenic variants were identified in 21 patients (19, 3%): 10 BRCA1, 2 BRCA2, 2 PALB2, 3 MUYTH, 1 CDKN2A; 2 ATM, 1 BRAD1, 1 BRIP1. One patient had an unexpected mutation in CDKN2A gene (gluteus sarcoma age 20; bilateral breast ca; ages 45 and 50; father lung ca, age 70; brother melanoma, age 35). Three patients had a significant mutation of a recessive condition in MUYTH. Of 61 patients previously tested negative for HBOC, 1 had a pathogenic variant in BRCA1 and 17/ 19 patients with VUS were classified negative in BRCA genes with MyRisk.Patients are willing to be disclosed all available information from panel testing. Differences were observed among type of results at short and mid-term. Cancer worry was higher in moderate-penetrance carriers than high penetrance carriers. Longer follow up is ongoing.
Conclusions: Panel testing in patients with HBOC yielded a 19, 3% mutation rate, increasing the yield of genetic mutations beyond BRCA. Patients are willing to be disclosed all available information from panel testing.
000086497 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000086497 590__ $$a11.855$$b2016
000086497 591__ $$aONCOLOGY$$b10 / 217 = 0.046$$c2016$$dQ1$$eT1
000086497 592__ $$a5.096$$b2016
000086497 593__ $$aHematology$$c2016$$dQ1
000086497 593__ $$aOncology$$c2016$$dQ1
000086497 593__ $$aMedicine (miscellaneous)$$c2016$$dQ1
000086497 655_4 $$ainfo:eu-repo/semantics/conferenceObject$$vinfo:eu-repo/semantics/publishedVersion
000086497 700__ $$aEsteban, I.
000086497 700__ $$aLlort, G.
000086497 700__ $$aServitja, S.
000086497 700__ $$aPeralta, S.M.
000086497 700__ $$aGarau, I.
000086497 700__ $$aCano, J.M.
000086497 700__ $$aSerrano, R.
000086497 700__ $$aFita, M.J.J.
000086497 700__ $$aCasas, A.
000086497 700__ $$aGrana, B.
000086497 700__ $$aTeule, A.
000086497 700__ $$aMarquez, A.
000086497 700__ $$aMartinez, J.E.A.
000086497 700__ $$0(orcid)0000-0002-9159-4988$$aAntón, A.$$uUniversidad de Zaragoza
000086497 700__ $$aBrunet, J.
000086497 700__ $$aBalaguer, F.
000086497 700__ $$aGonzalez, S.
000086497 700__ $$aBalmana, J.
000086497 700__ $$aAlonso, C.
000086497 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000086497 773__ $$g27, Suppl. 6 (2016), [176P] vi53$$pAnn. oncol.$$tANNALS OF ONCOLOGY$$x0923-7534
000086497 8564_ $$s37097$$uhttps://zaguan.unizar.es/record/86497/files/texto_completo.pdf$$yVersión publicada
000086497 8564_ $$s60317$$uhttps://zaguan.unizar.es/record/86497/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000086497 909CO $$ooai:zaguan.unizar.es:86497$$particulos$$pdriver
000086497 951__ $$a2020-02-21-13:52:30
000086497 980__ $$aARTICLE