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Results: 1 to 20 of 123

Similar articles for PubMed (Select 21990134)

1.

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

2.

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

Spearman AD, Sweet K, Zhou XP, McLennan J, Couch FJ, Toland AE.

J Clin Oncol. 2008 Nov 20;26(33):5393-400. doi: 10.1200/JCO.2008.17.8228. Epub 2008 Sep 29. Erratum in: J Clin Oncol. 2009 May 10;27(14):2415.

3.

BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.

Lindor NM, Goldgar DE, Tavtigian SV, Plon SE, Couch FJ.

Oncologist. 2013;18(5):518-24. doi: 10.1634/theoncologist.2012-0452. Epub 2013 Apr 24.

4.

Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.

Santos C, Peixoto A, Rocha P, Pinto P, Bizarro S, Pinheiro M, Pinto C, Henrique R, Teixeira MR.

J Mol Diagn. 2014 May;16(3):324-34. doi: 10.1016/j.jmoldx.2014.01.005. Epub 2014 Mar 5.

5.

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.

Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA.

Hum Mutat. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3.

6.

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Kuusisto KM, Bebel A, Vihinen M, Schleutker J, Sallinen SL.

Breast Cancer Res. 2011 Feb 28;13(1):R20. doi: 10.1186/bcr2832.

7.

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.

Guidugli L, Pankratz VS, Singh N, Thompson J, Erding CA, Engel C, Schmutzler R, Domchek S, Nathanson K, Radice P, Singer C, Tonin PN, Lindor NM, Goldgar DE, Couch FJ.

Cancer Res. 2013 Jan 1;73(1):265-75. doi: 10.1158/0008-5472.CAN-12-2081. Epub 2012 Oct 29.

8.

Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families.

Kawaku S, Sato R, Song H, Bando Y, Arinami T, Noguchi E.

J Hum Genet. 2013 Sep;58(9):618-21. doi: 10.1038/jhg.2013.71. Epub 2013 Jul 11.

PMID:
23842040
9.

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.

10.

BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models.

Capalbo C, Ricevuto E, Vestri A, Ristori E, Sidoni T, Buffone O, Adamo B, Cortesi E, Marchetti P, Scambia G, Tomao S, Rinaldi C, Zani M, Ferraro S, Frati L, Screpanti I, Gulino A, Giannini G.

Ann Oncol. 2006 Jun;17 Suppl 7:vii34-40.

11.

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

Claes K, Poppe B, Coene I, Paepe AD, Messiaen L.

Br J Cancer. 2004 Mar 22;90(6):1244-51.

12.

BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes.

Berry DA, Iversen ES Jr, Gudbjartsson DF, Hiller EH, Garber JE, Peshkin BN, Lerman C, Watson P, Lynch HT, Hilsenbeck SG, Rubinstein WS, Hughes KS, Parmigiani G.

J Clin Oncol. 2002 Jun 1;20(11):2701-12.

PMID:
12039933
13.

Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening.

Smith A, Moran A, Boyd MC, Bulman M, Shenton A, Smith L, Iddenden R, Woodward ER, Lalloo F, Maher ER, Evans DG.

J Med Genet. 2007 Jan;44(1):10-15. Epub 2006 Nov 1.

14.

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.

Peixoto A, Salgueiro N, Santos C, Varzim G, Rocha P, Soares MJ, Pereira D, Rodrigues H, Bento MJ, Fráguas A, Moura G, Regateiro F, Castedo S, Teixeira MR.

Fam Cancer. 2006;5(4):379-87. Epub 2006 Jul 7.

PMID:
16826315
15.

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.

Gómez García EB, Oosterwijk JC, Timmermans M, van Asperen CJ, Hogervorst FB, Hoogerbrugge N, Oldenburg R, Verhoef S, Dommering CJ, Ausems MG, van Os TA, van der Hout AH, Ligtenberg M, van den Ouweland A, van der Luijt RB, Wijnen JT, Gille JJ, Lindsey PJ, Devilee P, Blok MJ, Vreeswijk MP.

Breast Cancer Res. 2009;11(1):R8. doi: 10.1186/bcr2223. Epub 2009 Feb 6.

16.

BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.

Tazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.

Gynecol Oncol. 2012 Jun;125(3):687-92. doi: 10.1016/j.ygyno.2012.03.007. Epub 2012 Mar 13.

PMID:
22425665
17.

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

Vallée MP, Francy TC, Judkins MK, Babikyan D, Lesueur F, Gammon A, Goldgar DE, Couch FJ, Tavtigian SV.

Hum Mutat. 2012 Jan;33(1):22-8. doi: 10.1002/humu.21629. Epub 2011 Nov 3.

18.

Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

Hansen TV, Jønson L, Steffensen AY, Andersen MK, Kjaergaard S, Gerdes AM, Ejlertsen B, Nielsen FC.

Fam Cancer. 2011 Jun;10(2):207-12. doi: 10.1007/s10689-011-9422-5.

PMID:
21318380
19.

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, Selamat S, Yoon SY, Taib NA, Thong MK, Yip CH, Teo SH.

Breast Cancer Res. 2008;10(4):R59. doi: 10.1186/bcr2118. Epub 2008 Jul 16.

20.

BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families.

Cherbal F, Bakour R, Adane S, Boualga K, Benais-Pont G, Maillet P.

Dis Markers. 2010;28(6):377-84. doi: 10.3233/DMA-2010-0718.

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