- ►nih.gov DF Easton, AM Deffenbaugh, D Pruss, C Frye, … - The American Journal of Human Genetics, 2007 - Elsevier Mutation screening of the breast and ovarian cancer–predisposition genes BRCA1
and BRCA2 is becoming an increasingly important part of clinical practice.
Classification of rare nontruncating sequence variants in these genes is ... Cited by 58 - Related articles - BL Direct - All 9 versions
- ►ascopubs.org CH Barcenas, GM Hosain, B Arun, J Zong, X … - Journal of Clinical Oncology, 2006 - jco.ascopubs.org Purpose Carrier prediction models estimate the probability that a person has a
BRCA mutation. We evaluated the accuracy of the BOADICEA model and compared its
performance with that of other models (BRCAPRO, Myriad I and II, Couch, and ... Cited by 47 - Related articles - All 9 versions
SV Tavtigian, GB Byrnes, DE Goldgar, A … - Hum Mutat, 2008 - assets0.pubget.com For the Mutation Pathogenicity Special Issue Many individually rare missense
substitutions are encountered during deep resequencing of candidate
susceptibility genes and clinical mutation screening of known ... Cited by 19 - Related articles - View as HTML - All 4 versions
A Osorio, RL Milne, E Honrado, A Barroso, O … - Human mutation, 2007 - interscience.wiley.com Classification of rare missense variants in disease susceptibility genes as
neutral or disease-causing is important for genetic counseling. Different
criteria are used to help classify such variants in BRCA1 and BRCA2; ... Cited by 16 - Related articles - BL Direct - All 3 versions
C Pettigrew, N Wayte, PK Lovelock, SV … - Breast Cancer Research, 2005 - biomedcentral.com Page 1. Open Access Available online http://breast-cancer-research.com/content/
7/6/R929 R929 Vol 7No 6 Research article Evolutionary ... Cited by 14 - Related articles - View as HTML - All 7 versions
O Anczuków, M Buisson, MJ Salles, S … - Genes Chromosomes and Cancer, 2008 - interscience.wiley.com Numerous mutations identified in breast/ovarian cancer families occur in splice
sites of the BRCA1 gene. Splicing can also be disrupted by mutations occurring
in exonic splicing enhancer (ESE) sequences. It is important to identify ... Cited by 5 - Related articles - BL Direct - All 3 versions
EH Rosenberg, C Martinez Munoz, OT … - Human mutation, 2007 - interscience.wiley.com Creatine transporter deficiency is an X-linked mental retardation disorder
caused by mutations in the creatine transporter gene (SLC6A8). So far, 20
mutations in the SLC6A8 gene have been described. We have developed a ... Cited by 4 - Related articles - BL Direct - All 4 versions
S Millevoi, S Bernat, D Telly, F Fouque, L … - Breast Cancer Research and Treatment - Springer Abstract Several unclassified variants (UV) of BRCA1 can be deleterious by
affecting normal pre-mRNA splicing. Here, we investigated the consequences at
the mRNA level of the frequently encountered c.5242C[A UV in BRCA1 exon 18. ... Cited by 1 - Related articles - All 2 versions
CA Pettigrew, JD French, JM Saunus, SL … - Breast Cancer Research and Treatment - Springer Abstract Recent characterization of the mammalian transcriptome has confirmed
its predicted complexity, with many loci encoding multiple splice variants and
pseudogenes. The breast cancer susceptibility gene BRCA1 is a tumour ... Cited by 1 - Related articles - All 2 versions
P Lovelock, A Spurdle, M Mok, D Farrugia, S … - Breast Cancer Research, 2007 - dx.doi.org Many of the DNA sequence variants identified in the breast cancer susceptibility
gene BRCA1 remain unclassified in terms of their potential pathogenicity. Both
multifactorial likelihood analysis and functional approaches have been ... Cited by 1
