Amanda B Spurdle


Ontology type: schema:Person     


Person Info

NAME

Amanda B

SURNAME

Spurdle

Publications in SciGraph latest 50 shown

  • 2019-12 Shared heritability and functional enrichment across six solid cancers in NATURE COMMUNICATIONS
  • 2018-12-03 A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome in GENETICS IN MEDICINE
  • 2018-12 Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls in NATURE COMMUNICATIONS
  • 2018-12 Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices in NPJ GENOMIC MEDICINE
  • 2018-11 Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val) in BREAST CANCER RESEARCH AND TREATMENT
  • 2017-12 Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events in BREAST CANCER RESEARCH
  • 2017-08 Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing in MODERN PATHOLOGY
  • 2017-05 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer in NATURE GENETICS
  • 2016-12 Meta-analysis of gene expression studies in endometrial cancer identifies gene expression profiles associated with aggressive disease and patient outcome in SCIENTIFIC REPORTS
  • 2016-12 Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group in HEREDITARY CANCER IN CLINICAL PRACTICE
  • 2016-06 Five endometrial cancer risk loci identified through genome-wide association analysis in NATURE GENETICS
  • 2015-12 An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers in BREAST CANCER RESEARCH
  • 2015-09 Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population in QUALITY OF LIFE RESEARCH
  • 2015-03 Infertility and incident endometrial cancer risk: a pooled analysis from the epidemiology of endometrial cancer consortium (E2C2) in BRITISH JOURNAL OF CANCER
  • 2015-03 Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition in HUMAN GENETICS
  • 2015-02 Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk in HUMAN GENETICS
  • 2014-12 Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers in BREAST CANCER RESEARCH
  • 2014-12 Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia in BREAST CANCER RESEARCH
  • 2014-10 A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer in NATURE GENETICS
  • 2014-03 Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status: a literature review in FAMILIAL CANCER
  • 2014-02 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database in NATURE GENETICS
  • 2014-02 Genome-wide association study of endometrial cancer in E2C2 in HUMAN GENETICS
  • 2013-04 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array in NATURE GENETICS
  • 2013-04 Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer in NATURE GENETICS
  • 2013-03 Glycemic index, glycemic load and endometrial cancer risk: results from the Australian National Endometrial Cancer study and an updated systematic review and meta-analysis in EUROPEAN JOURNAL OF NUTRITION
  • 2012-12 Referral of Queensland women with endometrial cancer to genetic services in HEREDITARY CANCER IN CLINICAL PRACTICE
  • 2012-12 Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants in HEREDITARY CANCER IN CLINICAL PRACTICE
  • 2012-12 Colorectal tumour BRAF V600E and MLH1 promoter methylation status in the assessment of mismatch repair gene sequence variants of unknown clinical significance in HEREDITARY CANCER IN CLINICAL PRACTICE
  • 2012-11 Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers in BREAST CANCER RESEARCH AND TREATMENT
  • 2012-08 Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours in BREAST CANCER RESEARCH AND TREATMENT
  • 2012-04 Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members in BREAST CANCER RESEARCH AND TREATMENT
  • 2012-03 Use of talcum powder and endometrial cancer risk in CANCER CAUSES & CONTROL
  • 2012-02 Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers in BREAST CANCER RESEARCH
  • 2011-12 Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 in BREAST CANCER RESEARCH
  • 2011-12 A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survival in BMC CANCER
  • 2011-08 Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study in NATURE GENETICS
  • 2011-08 Rare variants in the ATMgene and risk of breast cancer in BREAST CANCER RESEARCH
  • 2011-06 Mutation deep within an intron of MSH2 causes Lynch syndrome in FAMILIAL CANCER
  • 2011-06 Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript in HUMAN GENETICS
  • 2011-05 Genome-wide association study identifies a common variant associated with risk of endometrial cancer in NATURE GENETICS
  • 2011-04 Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2 in BRITISH JOURNAL OF CANCER
  • 2011-04 Exploring the link between MORF4L1 and risk of breast cancer in BREAST CANCER RESEARCH
  • 2011-02 No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women in BREAST CANCER RESEARCH AND TREATMENT
  • 2010-12 Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study in BREAST CANCER RESEARCH
  • 2010-12 Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2transcripts in BMC MEDICAL GENETICS
  • 2010-12 Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2mutation carriers in BREAST CANCER RESEARCH
  • 2010-12 Polycystic ovary syndrome increases the risk of endometrial cancer in women aged less than 50 years: an Australian case–control study in CANCER CAUSES & CONTROL
  • 2010-10 A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population in NATURE GENETICS
  • 2010-07 Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers in BREAST CANCER RESEARCH AND TREATMENT
  • 2010-06-15 Prioritizing Candidate Genetic Modifiers of BRCA1 and BRCA2 Using a Combinatorial Analysis of Global Expression and Polymorphism Association Studies of Breast Cancer in CANCER SUSCEPTIBILITY
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