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Items: 1 to 20 of 73

1.

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

Kuznetsov SG, Liu P, Sharan SK.

Nat Med. 2008 Aug;14(8):875-81. doi: 10.1038/nm.1719. Epub 2008 Jul 6.

2.

Functional analysis of human BRCA2 variants using a mouse embryonic stem cell-based assay.

Kuznetsov SG, Chang S, Sharan SK.

Methods Mol Biol. 2010;653:259-80. doi: 10.1007/978-1-60761-759-4_16. Review.

PMID:
20721749
3.

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
4.

Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations.

Chang S, Biswas K, Martin BK, Stauffer S, Sharan SK.

J Clin Invest. 2009 Oct;119(10):3160-71. doi: 10.1172/JCI39836. Epub 2009 Sep 21.

5.

Smoking and risk of breast cancer in carriers of mutations in BRCA1 or BRCA2 aged less than 50 years.

Breast Cancer Family Registry.; Kathleen Cuningham Consortium for Research into Familial Breast Cancer (Australasia).; Ontario Cancer Genetics Network (Canada)..

Breast Cancer Res Treat. 2008 May;109(1):67-75. Epub 2007 Oct 31.

6.

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
7.

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. Epub 2012 Jun 7.

8.

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.

9.

Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

Valarmathi MT, Sawhney M, Deo SS, Shukla NK, Das SN.

Hum Mutat. 2004 Feb;23(2):205.

PMID:
14722926
10.

Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women.

Distelman-Menachem T, Shapira T, Laitman Y, Kaufman B, Barak F, Tavtigian S, Friedman E.

Fam Cancer. 2009;8(2):127-33. doi: 10.1007/s10689-008-9216-6. Epub 2008 Sep 17.

PMID:
18798010
11.

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

Meindl A; German Consortium for Hereditary Breast and Ovarian Cancer..

Int J Cancer. 2002 Feb 1;97(4):472-80.

12.

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.

13.

Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1.

Miramar MD, Calvo MT, Rodriguez A, Antón A, Lorente F, Barrio E, Herrero A, Burriel J, García de Jalón A.

Breast Cancer Res Treat. 2008 Nov;112(2):353-8. doi: 10.1007/s10549-007-9868-1. Epub 2008 Jan 4.

PMID:
18176857
14.
15.

BRCA1/2 germline mutations and their clinical importance in Turkish breast cancer patients.

Cecener G, Egeli U, Tunca B, Erturk E, Ak S, Gokgoz S, Tasdelen I, Tezcan G, Demirdogen E, Bayram N, Avci N, Evrensel T.

Cancer Invest. 2014 Oct;32(8):375-87. doi: 10.3109/07357907.2014.919302. Epub 2014 Jun 2.

PMID:
24884828
16.

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

Pettigrew CA, Wayte N, Wronski A, Lovelock PK, Spurdle AB, Brown MA.

Breast Cancer Res Treat. 2008 Jul;110(2):227-34. Epub 2007 Sep 26.

PMID:
17899372
17.

Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers.

Walker LC, Waddell N, Ten Haaf A; kConFab Investigators., Grimmond S, Spurdle AB.

Breast Cancer Res Treat. 2008 Nov;112(2):229-36. Epub 2007 Dec 20.

PMID:
18095154
18.

Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing.

de la Hoya M, Osorio A, Godino J, Sulleiro S, Tosar A, Perez-Segura P, Fernandez C, Rodríguez R, Díaz-Rubio E, Benítez J, Devilee P, Caldés T.

Int J Cancer. 2002 Feb 1;97(4):466-71.

19.

Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients.

Manguoglu AE, Lüleci G, Ozçelik T, Colak T, Schayek H, Akaydin M, Friedman E.

Hum Mutat. 2003 Apr;21(4):444-5.

PMID:
12655560
20.

Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico.

Villarreal-Garza C, Alvarez-Gómez RM, Pérez-Plasencia C, Herrera LA, Herzog J, Castillo D, Mohar A, Castro C, Gallardo LN, Gallardo D, Santibáñez M, Blazer KR, Weitzel JN.

Cancer. 2015 Feb 1;121(3):372-8. doi: 10.1002/cncr.29058. Epub 2014 Sep 18.

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