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Items: 1 to 20 of 212

1.

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.

Feliubadaló L, Lopez-Doriga A, Castellsagué E, del Valle J, Menéndez M, Tornero E, Montes E, Cuesta R, Gómez C, Campos O, Pineda M, González S, Moreno V, Brunet J, Blanco I, Serra E, Capellá G, Lázaro C.

Eur J Hum Genet. 2013 Aug;21(8):864-70. doi: 10.1038/ejhg.2012.270. Epub 2012 Dec 19.

2.

Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.

Ruiz A, Llort G, Yagüe C, Baena N, Viñas M, Torra M, Brunet A, Seguí MA, Saigí E, Guitart M.

Biomed Res Int. 2014;2014:542541. doi: 10.1155/2014/542541. Epub 2014 Jun 26.

3.

DHPLC/SURVEYOR nuclease: a sensitive, rapid and affordable method to analyze BRCA1 and BRCA2 mutations in breast cancer families.

Pilato B, De Summa S, Danza K, Papadimitriou S, Zaccagna P, Paradiso A, Tommasi S.

Mol Biotechnol. 2012 Sep;52(1):8-15. doi: 10.1007/s12033-011-9468-5.

PMID:
22072316
4.

Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing.

Michils G, Hollants S, Dehaspe L, Van Houdt J, Bidet Y, Uhrhammer N, Bignon YJ, Vermeesch JR, Cuppens H, Matthijs G.

J Mol Diagn. 2012 Nov;14(6):623-30. doi: 10.1016/j.jmoldx.2012.05.006. Epub 2012 Sep 30.

PMID:
23034506
5.

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.

Hernan I, Borràs E, de Sousa Dias M, Gamundi MJ, Mañé B, Llort G, Agúndez JA, Blanca M, Carballo M.

J Mol Diagn. 2012 May-Jun;14(3):286-93. doi: 10.1016/j.jmoldx.2012.01.013. Epub 2012 Mar 16.

PMID:
22426013
6.

The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches.

D'Argenio V, Esposito MV, Telese A, Precone V, Starnone F, Nunziato M, Cantiello P, Iorio M, Evangelista E, D'Aiuto M, Calabrese A, Frisso G, D'Aiuto G, Salvatore F.

Clin Chim Acta. 2015 Jun 15;446:221-5. doi: 10.1016/j.cca.2015.03.045. Epub 2015 Apr 17.

7.

Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.

Trujillano D, Weiss ME, Schneider J, Köster J, Papachristos EB, Saviouk V, Zakharkina T, Nahavandi N, Kovacevic L, Rolfs A.

J Mol Diagn. 2015 Mar;17(2):162-70. doi: 10.1016/j.jmoldx.2014.11.004. Epub 2014 Dec 31.

PMID:
25556971
8.

HBOC multi-gene panel testing: comparison of two sequencing centers.

Schroeder C, Faust U, Sturm M, Hackmann K, Grundmann K, Harmuth F, Bosse K, Kehrer M, Benkert T, Klink B, Mackenroth L, Betcheva-Krajcir E, Wimberger P, Kast K, Heilig M, Nguyen HP, Riess O, Schröck E, Bauer P, Rump A.

Breast Cancer Res Treat. 2015 Jul;152(1):129-36. doi: 10.1007/s10549-015-3429-9. Epub 2015 May 29.

PMID:
26022348
9.

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.

Tarabeux J, Zeitouni B, Moncoutier V, Tenreiro H, Abidallah K, Lair S, Legoix-Né P, Leroy Q, Rouleau E, Golmard L, Barillot E, Stern MH, Rio-Frio T, Stoppa-Lyonnet D, Houdayer C.

Eur J Hum Genet. 2014 Apr;22(4):535-41. doi: 10.1038/ejhg.2013.181. Epub 2013 Aug 14.

10.

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations.

De Leeneer K, Hellemans J, De Schrijver J, Baetens M, Poppe B, Van Criekinge W, De Paepe A, Coucke P, Claes K.

Hum Mutat. 2011 Mar;32(3):335-44. doi: 10.1002/humu.21428. Epub 2011 Feb 8.

PMID:
21305653
11.

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

Castéra L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R, Goardon N, Letac O, Baert-Desurmont S, Tinat J, Bera O, Dugast C, Berthet P, Polycarpe F, Layet V, Hardouin A, Frébourg T, Vaur D.

Eur J Hum Genet. 2014 Nov;22(11):1305-13. doi: 10.1038/ejhg.2014.16. Epub 2014 Feb 19.

12.

Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing.

Dacheva D, Dodova R, Popov I, Goranova T, Mitkova A, Mitev V, Kaneva R.

Mol Diagn Ther. 2015 Apr;19(2):119-30. doi: 10.1007/s40291-015-0136-5.

PMID:
25893891
13.

Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.

Ozcelik H, Shi X, Chang MC, Tram E, Vlasschaert M, Di Nicola N, Kiselova A, Yee D, Goldman A, Dowar M, Sukhu B, Kandel R, Siminovitch K.

J Mol Diagn. 2012 Sep;14(5):467-75. doi: 10.1016/j.jmoldx.2012.03.006. Epub 2012 Aug 6.

PMID:
22874498
14.

Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.

Konecny M, Milly M, Zavodna K, Weismanova E, Gregorova J, Mlkva I, Ilencikova D, Kausitz J, Bartosova Z.

Breast Cancer Res Treat. 2011 Feb;126(1):119-30. doi: 10.1007/s10549-010-1325-x. Epub 2011 Jan 4.

PMID:
21203900
15.

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, Gutiérrez-Enríquez S, Menéndez M, Fachal L, Santamariña M, Steffensen AY, Jønson L, Agata S, Whiley P, Tognazzo S, Tornero E, Jensen UB, Balmaña J, Kruse TA, Goldgar DE, Lázaro C, Diez O, Spurdle AB, Vega A.

Breast Cancer Res Treat. 2012 Apr;132(3):1009-23. doi: 10.1007/s10549-011-1674-0. Epub 2011 Jul 19.

PMID:
21769658
16.

Prediction of BRCA2-association in hereditary breast carcinomas using array-CGH.

Joosse SA, Brandwijk KI, Devilee P, Wesseling J, Hogervorst FB, Verhoef S, Nederlof PM.

Breast Cancer Res Treat. 2012 Apr;132(2):379-89. doi: 10.1007/s10549-010-1016-7. Epub 2010 Jul 8.

PMID:
20614180
17.

Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform.

Chan M, Ji SM, Yeo ZX, Gan L, Yap E, Yap YS, Ng R, Tan PH, Ho GH, Ang P, Lee AS.

J Mol Diagn. 2012 Nov;14(6):602-12. doi: 10.1016/j.jmoldx.2012.06.003. Epub 2012 Aug 22.

PMID:
22921312
18.

BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P.

Dis Markers. 2012;32(6):343-53. doi: 10.3233/DMA-2012-0893.

19.

Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.

De Leeneer K, Coene I, Crombez B, Simkens J, Van den Broecke R, Bols A, Stragier B, Vanhoutte I, De Paepe A, Poppe B, Claes K.

Breast Cancer Res Treat. 2012 Feb;132(1):87-95. doi: 10.1007/s10549-011-1544-9. Epub 2011 May 7.

PMID:
21553119
20.

ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing.

Lopez-Doriga A, Feliubadaló L, Menéndez M, Lopez-Doriga S, Morón-Duran FD, del Valle J, Tornero E, Montes E, Cuesta R, Campos O, Gómez C, Pineda M, González S, Moreno V, Capellá G, Lázaro C.

Hum Mutat. 2014 Mar;35(3):271-7.

PMID:
24227591
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