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BRCA2-Related Disorders

MedGen UID:
893660
Concept ID:
CN239275
Disease or Syndrome

Recent clinical studies

Etiology

Trusler O, Goodwin J, Laslett AL
Biochim Biophys Acta Rev Cancer 2021 Jan;1875(1):188459. Epub 2020 Oct 29 doi: 10.1016/j.bbcan.2020.188459. PMID: 33129865
Vos S, Elias SG, van der Groep P, Smolders YH, van Gils CH, van Diest PJ
Am J Surg Pathol 2018 Sep;42(9):1262-1272. doi: 10.1097/PAS.0000000000001115. PMID: 29979200
Pothuri B
Ann Oncol 2013 Nov;24 Suppl 8:viii22-viii27. doi: 10.1093/annonc/mdt307. PMID: 24131965
Reitsma W, de Bock GH, Oosterwijk JC, ten Hoor KA, Hollema H, Mourits MJ
Int J Gynecol Cancer 2012 May;22(4):579-85. doi: 10.1097/IGC.0b013e31823d1b5c. PMID: 22274543
Noruzinia M, Coupier I, Pujol P
Cancer 2005 Oct 15;104(8):1567-74. doi: 10.1002/cncr.21367. PMID: 16155942

Diagnosis

Vos S, Elias SG, van der Groep P, Smolders YH, van Gils CH, van Diest PJ
Am J Surg Pathol 2018 Sep;42(9):1262-1272. doi: 10.1097/PAS.0000000000001115. PMID: 29979200
de Mestier L, Danset JB, Neuzillet C, Rebours V, Cros J, Soufir N, Hammel P
Endocr Relat Cancer 2016 Oct;23(10):T57-67. Epub 2016 Aug 10 doi: 10.1530/ERC-16-0269. PMID: 27511924
Pothuri B
Ann Oncol 2013 Nov;24 Suppl 8:viii22-viii27. doi: 10.1093/annonc/mdt307. PMID: 24131965
Melchor L, Benítez J
Hum Genet 2013 Aug;132(8):845-63. Epub 2013 Apr 5 doi: 10.1007/s00439-013-1299-y. PMID: 23552954
Reitsma W, de Bock GH, Oosterwijk JC, ten Hoor KA, Hollema H, Mourits MJ
Int J Gynecol Cancer 2012 May;22(4):579-85. doi: 10.1097/IGC.0b013e31823d1b5c. PMID: 22274543

Therapy

Huang F, Kushner YB, Langleben A, Foulkes WD
Nat Rev Clin Oncol 2009 Aug;6(8):488-92. doi: 10.1038/nrclinonc.2009.90. PMID: 19644536
Levy-Lahad E, Krieger M, Gottfeld O, Renbaum P, Klein G, Eisenberg S, Lahad A, Kaufman B, Catane R
J Cell Biochem Suppl 2000;34:13-8. PMID: 10762009

Prognosis

Vos S, Elias SG, van der Groep P, Smolders YH, van Gils CH, van Diest PJ
Am J Surg Pathol 2018 Sep;42(9):1262-1272. doi: 10.1097/PAS.0000000000001115. PMID: 29979200
Zhong Q, Peng HL, Zhao X, Zhang L, Hwang WT
Clin Cancer Res 2015 Jan 1;21(1):211-20. Epub 2014 Oct 27 doi: 10.1158/1078-0432.CCR-14-1816. PMID: 25348513Free PMC Article
Melchor L, Benítez J
Hum Genet 2013 Aug;132(8):845-63. Epub 2013 Apr 5 doi: 10.1007/s00439-013-1299-y. PMID: 23552954
Reitsma W, de Bock GH, Oosterwijk JC, ten Hoor KA, Hollema H, Mourits MJ
Int J Gynecol Cancer 2012 May;22(4):579-85. doi: 10.1097/IGC.0b013e31823d1b5c. PMID: 22274543
Marcus JN, Watson P, Page DL, Narod SA, Lenoir GM, Tonin P, Linder-Stephenson L, Salerno G, Conway TA, Lynch HT
Cancer 1996 Feb 15;77(4):697-709. doi: 10.1002/(sici)1097-0142(19960215)77:4<697::aid-cncr16>3.0.co;2-w. PMID: 8616762

Clinical prediction guides

Vos S, Elias SG, van der Groep P, Smolders YH, van Gils CH, van Diest PJ
Am J Surg Pathol 2018 Sep;42(9):1262-1272. doi: 10.1097/PAS.0000000000001115. PMID: 29979200
Zhong Q, Peng HL, Zhao X, Zhang L, Hwang WT
Clin Cancer Res 2015 Jan 1;21(1):211-20. Epub 2014 Oct 27 doi: 10.1158/1078-0432.CCR-14-1816. PMID: 25348513Free PMC Article
Melchor L, Benítez J
Hum Genet 2013 Aug;132(8):845-63. Epub 2013 Apr 5 doi: 10.1007/s00439-013-1299-y. PMID: 23552954
Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M, Mulligan AM, Couch FJ, Engel C, McGuffog L, Healey S, Sinilnikova OM, Southey MC, Terry MB, Goldgar D, O'Malley F, John EM, Janavicius R, Tihomirova L, Hansen TV, Nielsen FC, Osorio A, Stavropoulou A, Benítez J, Manoukian S, Peissel B, Barile M, Volorio S, Pasini B, Dolcetti R, Putignano AL, Ottini L, Radice P, Hamann U, Rashid MU, Hogervorst FB, Kriege M, van der Luijt RB; HEBON, Peock S, Frost D, Evans DG, Brewer C, Walker L, Rogers MT, Side LE, Houghton C; EMBRACE, Weaver J, Godwin AK, Schmutzler RK, Wappenschmidt B, Meindl A, Kast K, Arnold N, Niederacher D, Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Varon-Mateeva R, Schönbuchner I, Gevensleben H, Stoppa-Lyonnet D, Belotti M, Barjhoux L; GEMO Study Collaborators, Isaacs C, Peshkin BN, Caldes T, de la Hoya M, Cañadas C, Heikkinen T, Heikkilä P, Aittomäki K, Blanco I, Lazaro C, Brunet J, Agnarsson BA, Arason A, Barkardottir RB, Dumont M, Simard J, Montagna M, Agata S, D'Andrea E, Yan M, Fox S; kConFab Investigators, Rebbeck TR, Rubinstein W, Tung N, Garber JE, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Szabo C, Offit K, Sakr R, Gaudet MM, Singer CF, Tea MK, Rappaport C, Mai PL, Greene MH, Sokolenko A, Imyanitov E, Toland AE, Senter L, Sweet K, Thomassen M, Gerdes AM, Kruse T, Caligo M, Aretini P, Rantala J, von Wachenfeld A, Henriksson K; SWE-BRCA Collaborators, Steele L, Neuhausen SL, Nussbaum R, Beattie M, Odunsi K, Sucheston L, Gayther SA, Nathanson K, Gross J, Walsh C, Karlan B, Chenevix-Trench G, Easton DF, Antoniou AC; Consortium of Investigators of Modifiers of BRCA1/2
Cancer Epidemiol Biomarkers Prev 2012 Jan;21(1):134-47. Epub 2011 Dec 5 doi: 10.1158/1055-9965.EPI-11-0775. PMID: 22144499Free PMC Article
Welcsh PL, Schubert EL, King MC
Clin Genet 1998 Dec;54(6):447-58. doi: 10.1111/j.1399-0004.1998.tb03764.x. PMID: 9894790

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