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Sandra Bonache

Autonomous University of Barcelona

24

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612

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Clinical consequences of BRCA2 hypomorphism

2021
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BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.

2021 Cancer Genetics and Cytogenetics
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Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes

2019 Human Mutation
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Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T

2019 Breast Cancer Research and Treatment
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Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer

2019 Journal of Medical Genetics
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BRCA1 ‐ and BRCA2 ‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge

2019 Human Mutation
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Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

2018 Frontiers in Genetics
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Abstract P6-06-03: Withdrawn

2018 Cancer Research
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A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation

2018 Embo Molecular Medicine
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Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics.

2016 Clinical & Translational Oncology
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Citations (17)