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- 2023
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Mark
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
(
- Contribution to journal › Article
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Mark
Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes
(
- Contribution to journal › Article
- 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
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- Contribution to journal › Article
- 2021
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Mark
Breast cancer risk genes - Association analysis in more than 113,000 women
(
- Contribution to journal › Article
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Mark
Precision oncology of high-grade ovarian cancer defined through targeted sequencing
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- Contribution to journal › Article
- 2019
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Mark
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
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- Contribution to journal › Article
- 2018
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Mark
BRCAsearch : written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer
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- Contribution to journal › Article
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Mark
Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication
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- Contribution to journal › Article
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Mark
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
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- Contribution to journal › Article
- 2017
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Mark
NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics
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- Contribution to journal › Article