Ana
Vega Gliemmo
Fundación Pública Galega de Medicina Xenómica
Santiago de Compostela, EspañaPublicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (29)
2023
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A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2
Human Mutation, Vol. 2023
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Comparing symptom reporting by prostate cancer patients and healthcare professionals in the international multicentre REQUITE study
Radiotherapy and Oncology, Vol. 178
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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Clinical cancer research : an official journal of the American Association for Cancer Research, Vol. 29, Núm. 16, pp. 3037-3050
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Genome-wide association study of treatment-related toxicity two years following radiotherapy for breast cancer
Radiotherapy and Oncology, Vol. 187
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Large-scale meta-genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types
JNCI Cancer Spectrum, Vol. 7, Núm. 6
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Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
British Journal of Cancer, Vol. 128, Núm. 12, pp. 2283-2294
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Paediatric-onset generalized pustular psoriasis secondary to myeloperoxidase mutations
Clinical and experimental dermatology, Vol. 48, Núm. 2, pp. 130-132
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Radiogenomics in lung cancer: Where are we?
Lung Cancer, Vol. 176, pp. 56-74
2022
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Human Mutation, Vol. 43, Núm. 12, pp. 1921-1944
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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Communications biology, Vol. 5, Núm. 1, pp. 1061
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Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))
European journal of human genetics : EJHG
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Meta-GWAS identifies the heritability of acute radiation-induced toxicities in head and neck cancer
Radiotherapy and Oncology, Vol. 176, pp. 138-148
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362
2021
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A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer
Prostate, Vol. 81, Núm. 10, pp. 683-693
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Polygenic hazard score is associated with prostate cancer in multi-ethnic populations
Nature Communications, Vol. 12, Núm. 1
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The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Genetics in Medicine, Vol. 23, Núm. 9, pp. 1726-1737
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Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
Nature Genetics, Vol. 53, Núm. 1, pp. 65-75
2020
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Ovarian and Breast Cancer Risks Associated with Pathogenic Variants in RAD51C and RAD51D
Journal of the National Cancer Institute, Vol. 112, Núm. 12, pp. 1242-1250
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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Genetics in Medicine, Vol. 22, Núm. 10, pp. 1653-1666
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The CHEK2 variant C.349A>G is associated with prostate cancer risk and carriers share a common ancestor
Cancers, Vol. 12, Núm. 11, pp. 1-17