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- 2023
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Mark
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
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- Contribution to journal › Article
- 2019
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Mark
Clinicians’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors : an international survey
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- Contribution to journal › Article
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Mark
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants : An ENIGMA report
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- Contribution to journal › Article
- 2018
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Mark
Use of the BOADICEA Web Application in clinical practice : appraisals by clinicians from various countries
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- Contribution to journal › Article
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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
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- Contribution to journal › Article
- 2016
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Mark
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
2016) In Nature Genetics(
- Contribution to journal › Article
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Mark
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
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- Contribution to journal › Article
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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
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- Contribution to journal › Article
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Mark
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
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- Contribution to journal › Article
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Mark
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
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- Contribution to journal › Article
- 2015
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Mark
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
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- Contribution to journal › Article
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Mark
Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers.
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- 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.
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- Contribution to journal › Article
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Mark
Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants
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- 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.
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- Contribution to journal › Article