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Results: 1 to 20 of 113

Similar articles for PubMed (Select 19706752)

1.

Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del.

De Nicolo A, Parisini E, Zhong Q, Dalla Palma M, Stoeckert KA, Domchek SM, Nathanson KL, Caligo MA, Vidal M, Cusick ME, Garber JE.

Cancer Res. 2009 Sep 1;69(17):7030-7. doi: 10.1158/0008-5472.CAN-09-1440. Epub 2009 Aug 25.

2.

Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

Tram E, Savas S, Ozcelik H.

PLoS One. 2013 May 21;8(5):e62468. doi: 10.1371/journal.pone.0062468. Print 2013.

3.

Collective evidence supports neutrality of BRCA1 V1687I, a novel sequence variant in the conserved THV motif of the first BRCT repeat.

Cortesi L, De Nicolo A, Medici V, Marino M, Turchetti D, Pradella LM, Rossi G, Parisini E, Federico M.

Breast Cancer Res Treat. 2012 Jul;134(1):435-41. doi: 10.1007/s10549-012-2052-2. Epub 2012 Apr 22.

PMID:
22527099
4.

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.

5.

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

Tischkowitz M, Hamel N, Carvalho MA, Birrane G, Soni A, van Beers EH, Joosse SA, Wong N, Novak D, Quenneville LA, Grist SA; kConFab, Nederlof PM, Goldgar DE, Tavtigian SV, Monteiro AN, Ladias JA, Foulkes WD.

Eur J Hum Genet. 2008 Jul;16(7):820-32. doi: 10.1038/ejhg.2008.13. Epub 2008 Feb 20.

6.

BRCA1 interacts with FHL2 and enhances FHL2 transactivation function.

Yan J, Zhu J, Zhong H, Lu Q, Huang C, Ye Q.

FEBS Lett. 2003 Oct 9;553(1-2):183-9.

7.

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.

8.

The LIM domain protein LMO4 interacts with the cofactor CtIP and the tumor suppressor BRCA1 and inhibits BRCA1 activity.

Sum EY, Peng B, Yu X, Chen J, Byrne J, Lindeman GJ, Visvader JE.

J Biol Chem. 2002 Mar 8;277(10):7849-56. Epub 2001 Dec 18.

9.

Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals.

Rutter JL, Smith AM, Dávila MR, Sigurdson AJ, Giusti RM, Pineda MA, Doody MM, Tucker MA, Greene MH, Zhang J, Struewing JP.

Hum Mutat. 2003 Aug;22(2):121-8.

PMID:
12872252
10.

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.

Am J Hum Genet. 2007 Nov;81(5):873-83. Epub 2007 Sep 6.

11.

Variants of uncertain significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling.

Moghadasi S, Hofland N, Wouts JN, Hogervorst FB, Wijnen JT, Vreeswijk MP, van Asperen CJ.

J Med Genet. 2013 Feb;50(2):74-9. doi: 10.1136/jmedgenet-2012-100961. Epub 2012 Dec 11.

PMID:
23231788
12.

Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families.

Guénard F, Labrie Y, Ouellette G, Joly Beauparlant C, Simard J, Durocher F; INHERIT BRCAs.

J Hum Genet. 2008;53(7):579-91. doi: 10.1007/s10038-008-0285-z. Epub 2008 Apr 15.

PMID:
18414782
13.

RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.

Campos B, Díez O, Domènech M, Baena M, Balmaña J, Sanz J, Ramírez A, Alonso C, Baiget M.

Hum Mutat. 2003 Oct;22(4):337.

PMID:
12955719
14.

Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.

Seong MW, Cho S, Noh DY, Han W, Kim SW, Park CM, Park HW, Kim SY, Kim JY, Park SS.

Clin Genet. 2009 Aug;76(2):152-60. doi: 10.1111/j.1399-0004.2009.01202.x. Epub 2009 Jul 28.

PMID:
19656164
15.

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

Lee MS, Green R, Marsillac SM, Coquelle N, Williams RS, Yeung T, Foo D, Hau DD, Hui B, Monteiro AN, Glover JN.

Cancer Res. 2010 Jun 15;70(12):4880-90. doi: 10.1158/0008-5472.CAN-09-4563. Epub 2010 Jun 1.

16.

Structure-based assessment of BRCA1 and BRCA2 mutations in a small Spanish population.

Salgado J, Zabalegui N, García-Amigot F, Gil MC, González MS, García-Foncillas J.

Oncol Rep. 2005 Jul;14(1):85-8.

PMID:
15944772
17.

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
19.

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.

20.

Mutations in the BRCT binding site of BRCA1 result in hyper-recombination.

Dever SM, Golding SE, Rosenberg E, Adams BR, Idowu MO, Quillin JM, Valerie N, Xu B, Povirk LF, Valerie K.

Aging (Albany NY). 2011 May;3(5):515-32.

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