Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

Por Thompson, Bryony A., Spurdle, Amanda B.
Publicado no Genes (Basel) (2015)

Knowledge, Attitudes and Referral Patterns of Lynch Syndrome: A Survey of Clinicians in Australia

Por Tan, Yen Y., Spurdle, Amanda B., Obermair, Andreas
Publicado no J Pers Med (2014)

Biomarkers in Women's Cancers, Gynecology, and Obstetrics

Por Fasching, Peter A., Konecny, Gottfried E., Spurdle, Amanda B.
Publicado em 2014

Meta-analysis of gene expression studies in endometrial cancer identifies gene expression profiles associated with aggressive disease and patient outcome

Por O’Mara, Tracy A., Zhao, Min, Spurdle, Amanda B.
Publicado no Sci Rep (2016)

Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours

Por Walker, Logan C., Krause, Lutz, Spurdle, Amanda B., Waddell, Nic
Publicado em 2012

Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)

Por Buchanan, Daniel D, Rosty, Christophe, Clendenning, Mark, Spurdle, Amanda B, Win, Aung Ko
Publicado em 2014

Prediction and Assessment of Splicing Alterations: Implications for clinical testing

Por Spurdle, Amanda B., Couch, Fergus J., Hogervorst, Frans B. L., Radice, Paolo, Sinilnikova, Olga M.
Publicado em 2008

Variation in the RAD51 gene and familial breast cancer

Por Lose, Felicity, Lovelock, Paul, Chenevix-Trench, Georgia, Mann, Graham J, Pupo, Gulietta M, Spurdle, Amanda B
Publicado em 2006

Genetic Evidence and Integration of Various Data Sources for Classifying Uncertain Variants Into a Single Model

Por Goldgar, David E., Easton, Douglas F., Byrnes, Graham B., Spurdle, Amanda B., Iversen, Edwin S., Greenblatt, Marc S.
Publicado em 2008

Pancreatic cancer and a novel MSH2 germline alteration

Por Lindor, Noralane M., Petersen, Gloria M., Spurdle, Amanda B., Thompson, Bryony, Goldgar, David E., Thibodeau, Stephen N.
Publicado em 2011

Use of DNA–Damaging Agents and RNA Pooling to Assess Expression Profiles Associated with BRCA1 and BRCA2 Mutation Status in Familial Breast Cancer Patients

Por Walker, Logan C., Thompson, Bryony A., Waddell, Nic, Investigators, kConFab, Grimmond, Sean M., Spurdle, Amanda B.
Publicado em 2010

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

Por Whiley, Phillip J, Pettigrew, Christopher A, Brewster, Brooke L, Walker, Logan C, Spurdle, Amanda B, Brown, Melissa A
Publicado em 2010

Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but...

Por Pettigrew, Christopher, Wayte, Nicola, Lovelock, Paul K, Tavtigian, Sean V, Chenevix-Trench, Georgia, Spurdle, Amanda B, Brown, Melissa A
Publicado em 2005

Bayes Analysis Provides Evidence of Pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) Variants Displaying In Vitro Splicing Results of Equivocal Clini...

Por Spurdle, Amanda B., Lakhani, Sunil R., Da Silva, Leonard M., Balleine, Rosemary L., Investigators, kConFab, Goldgar, David E.
Publicado em 2010

Tumor Characteristics as an Analytic Tool for Classifying Genetic Variants of Uncertain Clinical Significance

Por Hofstra, Robert M.W., Spurdle, Amanda B., Eccles, Diana, Foulkes, William D., de Wind, Niels, Hoogerbrugge, Nicoline, Hogervorst, Frans B.L.
Publicado em 2008

Possible Genetic Predisposition to Lymphedema after Breast Cancer

Por Newman, Beth, Lose, Felicity, Kedda, Mary-Anne, Francois, Mathias, Ferguson, Kaltin, Janda, Monika, Yates, Patsy, Spurdle, Amanda B., Hayes, Sandra C.
Publicado em 2012

No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer

Por Spurdle, Amanda B, Hopper, John L, Chen, Xiaoqing, McCredie, Margaret RE, Giles, Graham G, Newman, Beth, Chenevix-Trench, Georgia, Khanna, KumKum
Publicado em 2002

DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer

Por Flower, Kirsty J, Shenker, Natalie S, El-Bahrawy, Mona, Goldgar, David E, Parsons, Michael T, Spurdle, Amanda B, Morris, Joanna R, Brown, Robert, Flanagan, James M
Publicado no Epigenetics (2016)

BCoR-L1 variation and breast cancer

Por Lose, Felicity, Arnold, Jeremy, Young, David B, Brown, Carolyn J, Mann, Graham J, Pupo, Gulietta M, Khanna, Kum Kum, Chenevix-Trench, Georgia, Spurdle, Amanda B
Publicado em 2007

Correction: BCoR-L1 variation and breast cancer

Por Lose, Felicity, Arnold, Jeremy, Young, David B, Brown, Carolyn J, Mann, Graham J, Pupo, Gulietta M, Khanna, Kum Kum, Chenevix-Trench, Georgia, Spurdle, Amanda B
Publicado em 2008