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- 2020
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Mark
Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families
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- Contribution to journal › Article
- 2019
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Mark
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T
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- Contribution to journal › Article
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Mark
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes
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- Contribution to journal › Article
- 2018
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Mark
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings
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- Contribution to journal › Article
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Mark
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes : How Efficient Are They at Predicting RNA Alterations?
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- Contribution to journal › Article
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Mark
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
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- Contribution to journal › Article
- 2017
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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
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- Contribution to journal › Article
- 2016
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Mark
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
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- 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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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
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
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
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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.
(
- Contribution to journal › Article
- 2014
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Mark
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
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- 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
- 2012
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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
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- Contribution to journal › Article
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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
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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