- ►nih.gov [PDF] SV Tavtigian, AM Deffenbaugh, L Yin, T … - British Medical Journal, 2006 - jmg.bmj.com Background: Genetic testing for hereditary cancer syndromes contributes to the
medical management of patients who may be at increased risk of one or more
cancers. BRCA1 and BRCA2 testing for hereditary breast and ovarian cancer ... Cited by 65 - Related articles - BL Direct - All 8 versions
- ►nih.gov DE Goldgar, DF Easton, AM Deffenbaugh, ANA … - The American Journal of Human Genetics, 2004 - Elsevier Many sequence variants in predisposition genes are of uncertain clinical
significance, and classification of these variants into high- or low-risk
categories is an important problem in clinical genetics. Classification of ... Cited by 95 - Related articles - BL Direct - All 10 versions
- ►bmj.com V Abkevich, A Zharkikh, AM Deffenbaugh, D … - British Medical Journal, 2004 - jmg.bmj.com Introduction: Interpretation of results from mutation screening of tumour
suppressor genes known to harbour high risk susceptibility mutations, such as
APC, BRCA1, BRCA2, MLH1, MSH2, TP53, and PTEN, is becoming an increasingly ... Cited by 79 - Related articles - BL Direct - All 7 versions
- ►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
- ►aacrjournals.org G Chenevix-Trench, S Healey, S Lakhani, P … - Cancer Research, 2006 - AACR Approximately 7% of breast cancer and 10% of ovarian cancer are hereditary (1).
The majority ( 84%) of hereditary breast and ovarian cancer results from
inherited mutations in BRCA1 (MIM 113705) and BRCA2 (MIM 600185; ref. 2). ... Cited by 57 - Related articles - BL Direct - All 4 versions
- ►aacrjournals.org [PDF] T Judkins, BC Hendrickson, AM Deffenbaugh, K … - Cancer Research, 2005 - AACR Application of Embryonic Lethal or Other Obvious Phenotypes ... Found in Trans
with Known Deleterious Mutations ... Thaddeus Judkins, Brant C. Hendrickson,
Amie M. Deffenbaugh, Kristilyn Eliason, Benoıt Leclair, Michael J. Norton, ... Cited by 24 - Related articles - BL Direct - All 3 versions
- ►bmj.com CM Phelan, V Dapic, B Tice, R Favis, E Kwan, … - British Medical Journal, 2005 - jmg.bmj.com Background: BRCA1 is a tumour suppressor with pleiotropic actions. Germline
mutations in BRCA1 are responsible for a large proportion of breast–ovarian
cancer families. Several missense variants have been identified throughout ... Cited by 44 - Related articles - All 6 versions
- ►aacrjournals.org MA Carvalho, SM Marsillac, R Karchin, S … - Cancer Research, 2007 - AACR The breast and ovarian cancer predisposition gene BRCA1 displays large allelic
diversity with several thousand different alleles documented thus far (Breast
Cancer Information Core Database). 16 This is consistent with the expected ... Cited by 33 - Related articles - BL Direct - All 7 versions
- ►ascopubs.org [PDF] AB Spurdle, SR Lakhani, S Healey, S Parry, … - Journal of Clinical Oncology, 2008 - jco.ascopubs.org Amanda B. Spurdle, Sunil R. Lakhani, Sue Healey, Suzanne Parry, Leonard M. Da
Silva, Ross Brinkworth, John L. Hopper, Melissa A. Brown, Davit Babikyan,
Georgia Chenevix-Trench, Sean V. Tavtigian, and David E. Goldgar From the ... Cited by 16 - Related articles - All 5 versions
- ►nih.gov E Mathe, M Olivier, S Kato, C Ishioka, P … - Nucleic acids research, 2006 - Oxford Univ Press Prediction of the biological effect of missense substitutions has become
important because they are often observed in known or candidate disease
susceptibility genes. In this paper, we carried out a 3-step analysis of ... Cited by 33 - Related articles - BL Direct - All 11 versions
