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Items: 1 to 20 of 226

1.

Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.

Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV, Goldgar DE; kConFab Investigators.

J Clin Oncol. 2008 Apr 1;26(10):1657-63. doi: 10.1200/JCO.2007.13.2779.

PMID:
18375895
2.

Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, Scholl T, Bekessy A, Marsh A, Lovelock P, Wong M, Tesoriero A, Renard H, Southey M, Hopper JL, Yannoukakos K, Brown M, Easton D, Tavtigian SV, Goldgar D, Spurdle AB; kConFab Investigators.

Cancer Res. 2006 Feb 15;66(4):2019-27.

3.

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.

Mohammadi L, Vreeswijk MP, Oldenburg R, van den Ouweland A, Oosterwijk JC, van der Hout AH, Hoogerbrugge N, Ligtenberg M, Ausems MG, van der Luijt RB, Dommering CJ, Gille JJ, Verhoef S, Hogervorst FB, van Os TA, Gómez García E, Blok MJ, Wijnen JT, Helmer Q, Devilee P, van Asperen CJ, van Houwelingen HC.

BMC Cancer. 2009 Jun 29;9:211. doi: 10.1186/1471-2407-9-211.

4.

RNA-based analysis of BRCA1 and BRCA2 gene alterations.

Bonatti F, Pepe C, Tancredi M, Lombardi G, Aretini P, Sensi E, Falaschi E, Cipollini G, Bevilacqua G, Caligo MA.

Cancer Genet Cytogenet. 2006 Oct 15;170(2):93-101.

PMID:
17011978
5.

Patients with an unclassified genetic variant in the BRCA1 or BRCA2 genes show different clinical features from those with a mutation.

Gómez-García EB, Ambergen T, Blok MJ, van den Wijngaard A.

J Clin Oncol. 2005 Apr 1;23(10):2185-90.

PMID:
15800311
6.

Molecular and in silico analysis of BRCA1 and BRCA2 variants.

Tommasi S, Pilato B, Pinto R, Monaco A, Bruno M, Campana M, Digennaro M, Schittulli F, Lacalamita R, Paradiso A.

Mutat Res. 2008 Sep 26;644(1-2):64-70. doi: 10.1016/j.mrfmmm.2008.07.005. Epub 2008 Jul 18.

PMID:
18694767
7.

Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms.

Pettigrew C, Wayte N, Lovelock PK, Tavtigian SV, Chenevix-Trench G, Spurdle AB, Brown MA.

Breast Cancer Res. 2005;7(6):R929-39. Epub 2005 Sep 22.

8.

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
9.

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype.

Lakhani SR, Reis-Filho JS, Fulford L, Penault-Llorca F, van der Vijver M, Parry S, Bishop T, Benitez J, Rivas C, Bignon YJ, Chang-Claude J, Hamann U, Cornelisse CJ, Devilee P, Beckmann MW, Nestle-Krämling C, Daly PA, Haites N, Varley J, Lalloo F, Evans G, Maugard C, Meijers-Heijboer H, Klijn JG, Olah E, Gusterson BA, Pilotti S, Radice P, Scherneck S, Sobol H, Jacquemier J, Wagner T, Peto J, Stratton MR, McGuffog L, Easton DF; Breast Cancer Linkage Consortium.

Clin Cancer Res. 2005 Jul 15;11(14):5175-80.

10.

Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability.

Lovelock PK, Wong EM, Sprung CN, Marsh A, Hobson K, French JD, Southey M, Sculley T, Pandeya N, Brown MA, Chenevix-Trench G, Spurdle AB, McKay MJ; kConFab Investigators.

Breast Cancer Res Treat. 2007 Sep;104(3):257-66. Epub 2006 Oct 25.

PMID:
17063265
11.

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.

Bonnet C, Krieger S, Vezain M, Rousselin A, Tournier I, Martins A, Berthet P, Chevrier A, Dugast C, Layet V, Rossi A, Lidereau R, Frébourg T, Hardouin A, Tosi M.

J Med Genet. 2008 Jul;45(7):438-46. doi: 10.1136/jmg.2007.056895. Epub 2008 Apr 18.

PMID:
18424508
12.

Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information.

Osorio A, Milne RL, Honrado E, Barroso A, Diez O, Salazar R, de la Hoya M, Vega A, Benítez J.

Hum Mutat. 2007 May;28(5):477-85.

PMID:
17279547
13.

Twenty-three novel BRCA1 and BRCA2 sequence variations identified in a cohort of Swiss breast and ovarian cancer families.

Maillet P, Chappuis PO, Khoshbeen-Boudal M, Sciretta V, Sappino AP; SIAK Network for Cancer Predisposition Testing and Counseling.

Cancer Genet Cytogenet. 2006 Aug;169(1):62-8.

PMID:
16875939
14.

Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.

Han SH, Lee KR, Lee DG, Kim BY, Lee KE, Chung WS.

Clin Genet. 2006 Dec;70(6):496-501.

PMID:
17100994
15.

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Brüggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N, Lange MB, Oosterwijk JC, Meijers-Heijboer H, Ausems MG, Hoogerbrugge N, Verhoef S, Halley DJ, Vos YJ, Hogervorst F, Ligtenberg M, Hofstra RM.

Hum Mutat. 2006 Jul;27(7):654-66.

PMID:
16683254
16.

cDNA analysis demonstrates that the BRCA2 intronic variant IVS4-12del5 is a deleterious mutation.

Zhang L, Bacares R, Boyar S, Hudis C, Nafa K, Offit K.

Mutat Res. 2009 Apr 26;663(1-2):84-9. doi: 10.1016/j.mrfmmm.2008.11.010. Epub 2008 Nov 25.

PMID:
19070627
17.

G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history.

Anagnostopoulos T, Pertesi M, Konstantopoulou I, Armaou S, Kamakari S, Nasioulas G, Athanasiou A, Dobrovic A, Young MA, Goldgar D, Fountzilas G, Yannoukakos D.

Breast Cancer Res Treat. 2008 Jul;110(2):377-85. Epub 2007 Sep 28.

PMID:
17902052
18.

Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

Krajc M, Teugels E, Zgajnar J, Goelen G, Besic N, Novakovic S, Hocevar M, De Grève J.

BMC Med Genet. 2008 Sep 10;9:83. doi: 10.1186/1471-2350-9-83.

19.

BRCA1 and BRCA2 mutations in an Asian clinic-based population detected using a comprehensive strategy.

Ang P, Lim IH, Lee TC, Luo JT, Ong DC, Tan PH, Lee AS.

Cancer Epidemiol Biomarkers Prev. 2007 Nov;16(11):2276-84.

20.

Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families.

Hansen Tv, Jønson L, Albrechtsen A, Andersen MK, Ejlertsen B, Nielsen FC.

Breast Cancer Res Treat. 2009 May;115(2):315-23. doi: 10.1007/s10549-008-0088-0. Epub 2008 Jun 12.

PMID:
18546071

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