Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 28

References for PMC Articles for PubMed (Select 21990146)


Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.

Mucaki EJ, Ainsworth P, Rogan PK.

Hum Mutat. 2011 Jul;32(7):735-42. doi: 10.1002/humu.21513. Epub 2011 May 5.


A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

Iversen ES Jr, Couch FJ, Goldgar DE, Tavtigian SV, Monteiro AN.

Cancer Epidemiol Biomarkers Prev. 2011 Jun;20(6):1078-88. doi: 10.1158/1055-9965.EPI-10-1214. Epub 2011 Mar 29.


Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators, Tavtigian SV, Goldgar DE, Brown MA, Couch FJ, Spurdle AB.

Hum Mutat. 2011 Jun;32(6):678-87. doi: 10.1002/humu.21495. Epub 2011 Apr 12.


Genetic testing and cancer risk management recommendations by physicians for at-risk relatives.

Plon SE, Cooper HP, Parks B, Dhar SU, Kelly PA, Weinberg AD, Staggs S, Wang T, Hilsenbeck S.

Genet Med. 2011 Feb;13(2):148-54. doi: 10.1097/GIM.0b013e318207f564.


The role of BRCA mutation testing in determining breast cancer therapy.

Trainer AH, Lewis CR, Tucker K, Meiser B, Friedlander M, Ward RL.

Nat Rev Clin Oncol. 2010 Dec;7(12):708-17. doi: 10.1038/nrclinonc.2010.175. Epub 2010 Nov 9. Review.


Massively parallel sequencing and rare disease.

Ng SB, Nickerson DA, Bamshad MJ, Shendure J.

Hum Mol Genet. 2010 Oct 15;19(R2):R119-24. doi: 10.1093/hmg/ddq390. Epub 2010 Sep 15. Review.


Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.

Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC.

Proc Natl Acad Sci U S A. 2010 Jul 13;107(28):12629-33. doi: 10.1073/pnas.1007983107. Epub 2010 Jun 28.


Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

Walker LC, Whiley PJ, Couch FJ, Farrugia DJ, Healey S, Eccles DM, Lin F, Butler SA, Goff SA, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators, Tavtigian SV, Goldgar DE, Brown MA, Spurdle AB.

Hum Mutat. 2010 Jun;31(6):E1484-505. doi: 10.1002/humu.21267.


Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models.

Spurdle AB.

Curr Opin Genet Dev. 2010 Jun;20(3):315-23. doi: 10.1016/j.gde.2010.03.009. Epub 2010 Apr 22. Review.


American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K; American Society of Clinical Oncology.

J Clin Oncol. 2010 Feb 10;28(5):893-901. doi: 10.1200/JCO.2009.27.0660. Epub 2010 Jan 11. Review. No abstract available.


Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallée MP, Voegele C, Webb PM, Whiteman DC; Australian Cancer Study; Breast Cancer Family Registries (BCFR); Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab), Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G.

Am J Hum Genet. 2009 Oct;85(4):427-46. doi: 10.1016/j.ajhg.2009.08.018. Epub 2009 Sep 24.


Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.

Heinen CD.

Mutat Res. 2010 Nov 10;693(1-2):32-45. doi: 10.1016/j.mrfmmm.2009.09.004. Epub 2009 Sep 17. Review.


Targeted capture and massively parallel sequencing of 12 human exomes.

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J.

Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250. Epub 2009 Aug 16.


Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.

Arnold S, Buchanan DD, Barker M, Jaskowski L, Walsh MD, Birney G, Woods MO, Hopper JL, Jenkins MA, Brown MA, Tavtigian SV, Goldgar DE, Young JP, Spurdle AB.

Hum Mutat. 2009 May;30(5):757-70. doi: 10.1002/humu.20936.


A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.

Gómez García EB, Oosterwijk JC, Timmermans M, van Asperen CJ, Hogervorst FB, Hoogerbrugge N, Oldenburg R, Verhoef S, Dommering CJ, Ausems MG, van Os TA, van der Hout AH, Ligtenberg M, van den Ouweland A, van der Luijt RB, Wijnen JT, Gille JJ, Lindsey PJ, Devilee P, Blok MJ, Vreeswijk MP.

Breast Cancer Res. 2009;11(1):R8. doi: 10.1186/bcr2223. Epub 2009 Feb 6.


Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A.

Hum Mutat. 2008 Nov;29(11):1342-54. doi: 10.1002/humu.20896.


Prediction and assessment of splicing alterations: implications for clinical testing.

Spurdle AB, Couch FJ, Hogervorst FB, Radice P, Sinilnikova OM; IARC Unclassified Genetic Variants Working Group.

Hum Mutat. 2008 Nov;29(11):1304-13. doi: 10.1002/humu.20901.


Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group.

Hum Mutat. 2008 Nov;29(11):1282-91. doi: 10.1002/humu.20880.


Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.

Goldgar DE, Easton DF, Byrnes GB, Spurdle AB, Iversen ES, Greenblatt MS; IARC Unclassified Genetic Variants Working Group.

Hum Mutat. 2008 Nov;29(11):1265-72. doi: 10.1002/humu.20897.


Proceedings of the international consensus conference on breast cancer risk, genetics, & risk management, April, 2007.

Schwartz GF, Hughes KS, Lynch HT, Fabian CJ, Fentiman IS, Robson ME, Domchek SM, Hartmann LC, Holland R, Winchester DJ; Consensus Conference Committee The International Consensus Conference Committee.

Cancer. 2008 Nov 15;113(10):2627-37. doi: 10.1002/cncr.23903.

Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk