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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
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study
(
- Contribution to journal › Article
- 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
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Mark
Whole-genome sequencing of triple negative breast cancers in a standard population-based clinical setting
2020) UK Interdisciplinary Breast Cancer Symposium 2020 In Breast Cancer Research and Treatment 180. p.531-532(
- Contribution to journal › Published meeting abstract
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Mark
Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers
(
- Contribution to journal › Article
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Mark
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D
(
- 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
(
- Contribution to journal › Article
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Mark
Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study
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- Contribution to journal › Article
- 2018
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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
(
- 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.
(
- Contribution to journal › Article