Paula Rofes

发表

BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort

C. Lázaro, G. Capellá, A. López-Dóriga, 2021, Genes.

Improving genetic testing in hereditary cancer by RNA analysis: tools to prioritize splicing studies and challenges in applying American College of Medical Genetics and Genomics guidelines.

C. Lázaro, G. Capellá, L. Feliubadaló, 2020, The Journal of molecular diagnostics : JMD.

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

C. Lázaro, G. Capellá, L. Feliubadaló, 2018, Journal of Medical Genetics.

Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients

C. Lázaro, G. Capellá, A. López-Dóriga, 2020, Cancers.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant

C. Lázaro, G. Capellá, R. de Cid, 2021, Scientific Reports.

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

P. Pérez-Segura, T. Caldés, M. de la Hoya, 2018, PloS one.

Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients

C. Lázaro, G. Capellá, A. López-Dóriga, 2020, Human mutation.

ERCC3, a new ovarian cancer susceptibility gene?

C. Lázaro, G. Capellá, A. López-Dóriga, 2020, European journal of cancer.

Paired somatic-germline testing of 15 polyposis and colorectal cancer-predisposing genes highlights the role of APC mosaicism in de novo familial adenomatous polyposis.

C. Lázaro, G. Capellá, X. Matías-Guiu, 2021, The Journal of molecular diagnostics : JMD.

Biological basis of extensive pleiotropy between blood traits and cancer risk

C. Lázaro, L. Velten, R. de Cid, 2024, Genome medicine.

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

C. Lázaro, G. Capellá, L. Feliubadaló, 2018, Journal of Medical Genetics.