Associated Papers
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
Andaluz S et al.
Bmc Genomics, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Human Metastatic Cholangiocarcinoma Patient-Derived Xenografts and Tumoroids for Preclinical Drug Evaluation.
Serra-Camprubí Q et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
Pereira JZ et al.
Molecular Biology Reports, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
Fernández-Lopez JC et al.
Human Genomics, 2019
Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
Ernst C et al.
Bmc Medical Genomics, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.
Buzolin AL et al.
Human Genomics, 2017
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
Functional assays for analysis of variants of uncertain significance in BRCA2.
Guidugli L et al.
Human Mutation, 2014
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Lindor NM et al.
Human Mutation, 2012
Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes? A small population-based study.
Beristain E et al.
Clinical Genetics, 2009
Functional assays for classification of BRCA2 variants of uncertain significance.
Farrugia DJ et al.
Cancer Research, 2008
BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.
Peixoto A et al.
Familial Cancer, 2006