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Items: 1 to 20 of 32

1.

Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.

Lai KN, Ho WK, Kang IN, Kang PC, Phuah SY, Mariapun S, Yip CH, Mohd Taib NA, Teo SH.

BMC Cancer. 2017 Feb 22;17(1):149. doi: 10.1186/s12885-017-3099-6.

2.

Synthetic viability by BRCA2 and PARP1/ARTD1 deficiencies.

Ding X, Ray Chaudhuri A, Callen E, Pang Y, Biswas K, Klarmann KD, Martin BK, Burkett S, Cleveland L, Stauffer S, Sullivan T, Dewan A, Marks H, Tubbs AT, Wong N, Buehler E, Akagi K, Martin SE, Keller JR, Nussenzweig A, Sharan SK.

Nat Commun. 2016 Aug 8;7:12425. doi: 10.1038/ncomms12425.

3.

Interaction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2.

Hartford SA, Chittela R, Ding X, Vyas A, Martin B, Burkett S, Haines DC, Southon E, Tessarollo L, Sharan SK.

PLoS Genet. 2016 Aug 4;12(8):e1006236. doi: 10.1371/journal.pgen.1006236.

4.

Replication fork stability confers chemoresistance in BRCA-deficient cells.

Ray Chaudhuri A, Callen E, Ding X, Gogola E, Duarte AA, Lee JE, Wong N, Lafarga V, Calvo JA, Panzarino NJ, John S, Day A, Crespo AV, Shen B, Starnes LM, de Ruiter JR, Daniel JA, Konstantinopoulos PA, Cortez D, Cantor SB, Fernandez-Capetillo O, Ge K, Jonkers J, Rottenberg S, Sharan SK, Nussenzweig A.

Nature. 2016 Jul 21;535(7612):382-7. doi: 10.1038/nature18325. Erratum in: Nature. 2016 Nov 17;539(7629):456.

5.

BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.

Thirthagiri E, Klarmann KD, Shukla AK, Southon E, Biswas K, Martin BK, North SL, Magidson V, Burkett S, Haines DC, Noer K, Matthai R, Tessarollo L, Loncarek J, Keller JR, Sharan SK.

Hum Mol Genet. 2016 May 15;25(10):1934-1945.

PMID:
26920070
6.

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context.

Thompson ER, Gorringe KL, Rowley SM, Li N, McInerny S, Wong-Brown MW, Devereux L, Li J; Lifepool Investigators., Trainer AH, Mitchell G, Scott RJ, James PA, Campbell IG.

Sci Rep. 2015 Oct 12;5:14800. doi: 10.1038/srep14800.

7.

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ.

PLoS One. 2015 Sep 2;10(9):e0135193. doi: 10.1371/journal.pone.0135193.

8.

Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins.

Prakash R, Zhang Y, Feng W, Jasin M.

Cold Spring Harb Perspect Biol. 2015 Apr 1;7(4):a016600. doi: 10.1101/cshperspect.a016600. Review.

9.

Genome annotation by shotgun inactivation of a native gene in hemizygous cells: application to BRCA2 with implication of hypomorphic variants.

Ghosh S, Bhunia AK, Paun BC, Gilbert SF, Dhru U, Patel K, Kern SE.

Hum Mutat. 2015 Feb;36(2):260-9. doi: 10.1002/humu.22736.

10.

Alteration of BRCA1 expression affects alcohol-induced transcription of RNA Pol III-dependent genes.

Zhong Q, Shi G, Zhang Y, Lu L, Levy D, Zhong S.

Gene. 2015 Feb 1;556(1):74-9. doi: 10.1016/j.gene.2014.11.009.

11.

TP53 supports basal-like differentiation of mammary epithelial cells by preventing translocation of deltaNp63 into nucleoli.

Munne PM, Gu Y, Tumiati M, Gao P, Koopal S, Uusivirta S, Sawicki J, Wei GH, Kuznetsov SG.

Sci Rep. 2014 Apr 11;4:4663. doi: 10.1038/srep04663.

12.

The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.

Christou CM, Hadjisavvas A, Kyratzi M, Flouri C, Neophytou I, Anastasiadou V, Loizidou MA, Kyriacou K.

PLoS One. 2014 Apr 2;9(4):e93400. doi: 10.1371/journal.pone.0093400.

13.

A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics.

Bakker JL, Thirthagiri E, van Mil SE, Adank MA, Ikeda H, Verheul HM, Meijers-Heijboer H, de Winter JP, Sharan SK, Waisfisz Q.

Hum Mutat. 2014 Apr;35(4):442-6. doi: 10.1002/humu.22505.

14.

BRCA2: one small step for DNA repair, one giant protein purified.

Jensen RB.

Yale J Biol Med. 2013 Dec 13;86(4):479-89. Review.

15.

Functional assays for analysis of variants of uncertain significance in BRCA2.

Guidugli L, Carreira A, Caputo SM, Ehlen A, Galli A, Monteiro AN, Neuhausen SL, Hansen TV, Couch FJ, Vreeswijk MP; ENIGMA consortium..

Hum Mutat. 2014 Feb;35(2):151-64. doi: 10.1002/humu.22478. Review.

16.

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.

Parsons MT, Whiley PJ, Beesley J, Drost M, de Wind N, Thompson BA, Marquart L, Hopper JL, Jenkins MA; Australasian Colorectal Cancer Family Registry., Brown MA, Tucker K, Warwick L, Buchanan DD, Spurdle AB.

Mol Carcinog. 2015 Jul;54(7):513-22. doi: 10.1002/mc.22116.

17.

A cancer-associated BRCA2 mutation reveals masked nuclear export signals controlling localization.

Jeyasekharan AD, Liu Y, Hattori H, Pisupati V, Jonsdottir AB, Rajendra E, Lee M, Sundaramoorthy E, Schlachter S, Kaminski CF, Ofir-Rosenfeld Y, Sato K, Savill J, Ayoub N, Venkitaraman AR.

Nat Struct Mol Biol. 2013 Oct;20(10):1191-8. doi: 10.1038/nsmb.2666.

18.

A guide for functional analysis of BRCA1 variants of uncertain significance.

Millot GA, Carvalho MA, Caputo SM, Vreeswijk MP, Brown MA, Webb M, Rouleau E, Neuhausen SL, Hansen Tv, Galli A, Brandão RD, Blok MJ, Velkova A, Couch FJ, Monteiro AN; ENIGMA Consortium Functional Assay Working Group..

Hum Mutat. 2012 Nov;33(11):1526-37. doi: 10.1002/humu.22150. Review.

19.

Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

Biswas K, Das R, Eggington JM, Qiao H, North SL, Stauffer S, Burkett SS, Martin BK, Southon E, Sizemore SC, Pruss D, Bowles KR, Roa BB, Hunter N, Tessarollo L, Wenstrup RJ, Byrd RA, Sharan SK.

Hum Mol Genet. 2012 Sep 15;21(18):3993-4006. doi: 10.1093/hmg/dds222.

20.

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.

Acedo A, Sanz DJ, Durán M, Infante M, Pérez-Cabornero L, Miner C, Velasco EA.

Breast Cancer Res. 2012 May 25;14(3):R87.

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