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- 2022
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Mark
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
(
- Contribution to journal › Article
- 2019
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Mark
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes
(
- Contribution to journal › Article
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Mark
Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification
(
- Contribution to journal › Article
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Mark
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants : An ENIGMA report
(
- Contribution to journal › Article
- 2018
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Mark
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
(
- Contribution to journal › Article
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Mark
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
(
- Contribution to journal › Article
- 2017
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Mark
Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3
(
- Contribution to journal › Article
- 2016
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Mark
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
(
- Contribution to journal › Article
- 2015
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Mark
Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers.
(
- Contribution to journal › Article
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Mark
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
(
- Contribution to journal › Article
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Mark
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
(
- Contribution to journal › Article
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Mark
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
(
- Contribution to journal › Article
- 2014
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Mark
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
(
- Contribution to journal › Article
- 2013
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Mark
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
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- Contribution to journal › Article
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Mark
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
(
- Contribution to journal › Article
- 2012
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Mark
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
(
- Contribution to journal › Article
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Mark
Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
(
- Contribution to journal › Article
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Mark
A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers
(
- Contribution to journal › Article
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Mark
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
(
- Contribution to journal › Article
-
Mark
Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
2012) In Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 21(4). p.645-657(
- Contribution to journal › Article
- 2011
-
Mark
Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers
(
- Contribution to journal › Article
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Mark
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
(
- Contribution to journal › Article
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Mark
Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer
(
- Contribution to journal › Article
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Mark
Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers.
(
- Contribution to journal › Article
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Mark
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
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
(
- Contribution to journal › Article
- 2010
-
Mark
Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
2010) In Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 19. p.2859-2868(
- Contribution to journal › Article
-
Mark
Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
(
- Contribution to journal › Article
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Mark
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
(
- Contribution to journal › Article
- 2009
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Mark
No evidence that GATA3 rs570613 SNP modifies breast cancer risk
(
- Contribution to journal › Article
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Mark
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
- 2007
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Mark
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: A consortium of investigators of modifiers of BRCA1/2 study
(
- Contribution to journal › Article