Ana
Vega Gliemmo
Helsinki University Central Hospital
Helsinki, FinlandiaPublicacións en colaboración con investigadores/as de Helsinki University Central Hospital (22)
2023
-
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
-
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
-
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
British Journal of Cancer, Vol. 128, Núm. 12, pp. 2283-2294
2022
-
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Communications biology, Vol. 5, Núm. 1, pp. 1061
2021
-
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Nature Communications, Vol. 12, Núm. 1
-
Erratum: Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature communications (2021) 12 1 (1078))
Nature communications
-
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
2020
-
Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
JAMA Oncology, Vol. 6, Núm. 8, pp. 1218-1230
-
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Nature Genetics, Vol. 52, Núm. 6, pp. 572-581
-
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
-
The spectrum of fancm protein truncating variants in European breast cancer cases
Cancers, Vol. 12, Núm. 2
2019
-
Association analyses identify 31 new risk loci for colorectal cancer susceptibility
Nature Communications, Vol. 10, Núm. 1
-
Erratum to: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (Nature Communications, (2018), 9, 1, (4616), 10.1038/s41467-018-06863-1)
Nature Communications
-
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Nature Communications, Vol. 10, Núm. 1
-
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Human Mutation, Vol. 40, Núm. 9, pp. 1557-1578
-
Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4)
Nature Communications
-
Shared heritability and functional enrichment across six solid cancers
Nature Communications, Vol. 10, Núm. 1
2018
-
Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
Nature Communications, Vol. 9, Núm. 1
-
Germline variation at 8q24 and prostate cancer risk in men of European ancestry
Nature Communications, Vol. 9, Núm. 1
-
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Human Mutation, Vol. 39, Núm. 5, pp. 593-620