Spurdle AB - Search Results

1

Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1.

Pettigrew CA, French JD, Saunus JM, Edwards SL, Sauer AV, Smart CE, Lundström T, Wiesner C, Spurdle AB, Rothnagel JA, Brown MA. Pettigrew CA, et al. Among authors: spurdle ab. Breast Cancer Res Treat. 2010 Jan;119(1):239-47. doi: 10.1007/s10549-008-0256-2. Epub 2008 Dec 9. Breast Cancer Res Treat. 2010. PMID: 19067158

2

The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia.

Marsh A, Spurdle AB, Turner BC, Fereday S, Thorne H, Pupo GM, Mann GJ, Hopper JL, Sambrook JF, Chenevix-Trench G; Australian Breast Cancer Family Study; Kathleen Cuningham Foundation for Research into Familial Breast Cancer. Marsh A, et al. Among authors: spurdle ab. Breast Cancer Res. 2001;3(5):346-9. doi: 10.1186/bcr319. Epub 2001 Jul 17. Breast Cancer Res. 2001. PMID: 11597326 Free PMC article.

3

Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals.

Jekimovs CR, Chen X, Arnold J, Gatei M, Richard DJ, Spurdle AB, Khanna KK, Chenevix-Trench G; kConFab Investigators. Jekimovs CR, et al. Among authors: spurdle ab. Br J Cancer. 2005 Feb 28;92(4):784-90. doi: 10.1038/sj.bjc.6602381. Br J Cancer. 2005. PMID: 15700044 Free PMC article.

4

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.

Lovelock PK, Healey S, Au W, Sum EY, Tesoriero A, Wong EM, Hinson S, Brinkworth R, Bekessy A, Diez O, Izatt L, Solomon E, Jenkins M, Renard H, Hopper J, Waring P, Tavtigian SV, Goldgar D, Lindeman GJ, Visvader JE, Couch FJ, Henderson BR, Southey M, Chenevix-Trench G, Spurdle AB, Brown MA; kConFab Investigators. Lovelock PK, et al. Among authors: spurdle ab. J Med Genet. 2006 Jan;43(1):74-83. doi: 10.1136/jmg.2005.033258. Epub 2005 May 27. J Med Genet. 2006. PMID: 15923272 Free PMC article.

5

Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.

Tesoriero AA, Wong EM, Jenkins MA, Hopper JL, Brown MA, Chenevix-Trench G, Spurdle AB, Southey MC; kConFab. Tesoriero AA, et al. Among authors: spurdle ab. Hum Mutat. 2005 Nov;26(5):495. doi: 10.1002/humu.9379. Hum Mutat. 2005. PMID: 16211554

6

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. Pettigrew C, et al. Among authors: spurdle ab. Breast Cancer Res. 2005;7(6):R929-39. doi: 10.1186/bcr1324. Epub 2005 Sep 22. Breast Cancer Res. 2005. PMID: 16280041 Free PMC article.

7

Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.

Lewis AG, Flanagan J, Marsh A, Pupo GM, Mann G, Spurdle AB, Lindeman GJ, Visvader JE, Brown MA, Chenevix-Trench G; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer. Lewis AG, et al. Among authors: spurdle ab. Breast Cancer Res. 2005;7(6):R1005-16. doi: 10.1186/bcr1336. Epub 2005 Oct 21. Breast Cancer Res. 2005. PMID: 16280053 Free PMC article.

8

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. Chenevix-Trench G, et al. Among authors: spurdle ab. Cancer Res. 2006 Feb 15;66(4):2019-27. doi: 10.1158/0008-5472.CAN-05-3546. Cancer Res. 2006. PMID: 16489001

9

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. Lovelock PK, et al. Among authors: spurdle ab. Breast Cancer Res Treat. 2007 Sep;104(3):257-66. doi: 10.1007/s10549-006-9415-5. Epub 2006 Oct 25. Breast Cancer Res Treat. 2007. PMID: 17063265

10

Mutation analysis of five candidate genes in familial breast cancer.

Marsh A, Healey S, Lewis A, Spurdle AB, Kedda MA, Khanna KK; kConFab; Mann GJ, Pupo GM, Lakhani SR, Chenevix-Trench G. Marsh A, et al. Among authors: spurdle ab. Breast Cancer Res Treat. 2007 Nov;105(3):377-89. doi: 10.1007/s10549-006-9461-z. Epub 2006 Dec 23. Breast Cancer Res Treat. 2007. PMID: 17187232

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