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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
Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer—an European consensus statement and expert recommendations
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- Contribution to journal › Article
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Mark
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
(
- 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
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
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- Contribution to journal › Article
- 2016
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Mark
Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy.
(
- Contribution to journal › Article
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Mark
The BRCA1-Δ11q alternative splice isoform bypasses germline mutations and promotes therapeutic resistance to PARP inhibition and cisplatin
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- Contribution to journal › Article
- 2015
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Mark
Olaparib Monotherapy in Patients With Advanced Cancer and a Germline BRCA1/2 Mutation.
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- Contribution to journal › Article
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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
- 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
- 2011
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Mark
Challenges to the Development of New Agents for Molecularly Defined Patient Subsets: Lessons From BRCA1/2-Associated Breast Cancer
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- Contribution to journal › Debate/Note/Editorial