Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Ospedale San Martino
Génova, ItaliaPublicacións en colaboración con investigadores/as de Ospedale San Martino (7)
2023
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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
2022
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First international workshop of the ATM and cancer risk group (4-5 December 2019)
Familial Cancer, Vol. 21, Núm. 2, pp. 211-227
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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
Genetics in Medicine, Vol. 24, Núm. 1, pp. 119-129
2019
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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
2018
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Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and breast/ovarian) cancer susceptibility genes: An international survey by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) clinical working group
JCO Precision Oncology, Vol. 2
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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Human Mutation, Vol. 39, Núm. 5, pp. 593-620