kConFab Investigators
The University of Melbourne(AU)Peter MacCallum Cancer Centre(AU)
Publications by Year
Research Areas
BRCA gene mutations in cancer, Cancer Genomics and Diagnostics, CRISPR and Genetic Engineering, Genetic factors in colorectal cancer, Breast Cancer Treatment Studies
Most-Cited Works
- → PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS(2016)217 cited
- → Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D(2020)159 cited
- → Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms(2016)90 cited
- → Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups(2016)79 cited
- → Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?(2007)73 cited
- → Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women(2016)70 cited
- → Recreational Physical Activity Is Associated with Reduced Breast Cancer Risk in Adult Women at High Risk for Breast Cancer: A Cohort Study of Women Selected for Familial and Genetic Risk(2019)68 cited
- → Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas(2012)68 cited
- → Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab(2016)66 cited
- → Functional Polymorphisms in the TERT Promoter Are Associated with Risk of Serous Epithelial Ovarian and Breast Cancers(2011)57 cited