Associated Papers
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
DNA damage response mutations enhance the antitumor efficacy of ATR and PARP inhibitors in cholangiocarcinoma cell lines.
Lerksuthirat T et al.
Oncology Letters, 2025
Homologous recombination repair status in metastatic prostate cancer by next-generation sequencing and functional immunofluorescence.
Arce-Gallego S et al.
Cell Reports. Medicine, 2025
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
BRCA1/2 mutations and outcomes among Middle Eastern patients with early-onset breast cancer in Oman.
Al Amri WS et al.
The Oncologist, 2024
Genetic Testing of Breast Cancer Patients with Very Early-Onset Breast Cancer (≤30 Years) Yields a High Rate of Germline Pathogenic Variants, Mainly in the BRCA1, TP53, and BRCA2 Genes.
Apostolou P et al.
Cancers, 2024
RediScore: Prospective validation of a pipeline for homologous recombination deficiency analysis.
Tsantikidi A et al.
Oncology Letters, 2023
Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia.
Rosado-Jiménez L et al.
Advances in Laboratory Medicine, 2023
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
Molina-Zayas M et al.
Molecular Genetics and Genomics : Mgg, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Magraner-Pardo L et al.
Scientific Reports, 2021
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).
Silvestri V et al.
Jama Oncology, 2020
Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.
Eoh KJ et al.
Cancer Research and Treatment, 2018
Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.
Pajares B et al.
Bmc Cancer, 2018
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR et al.
Human Mutation, 2018
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Lesueur F et al.
Frontiers in Oncology, 2018
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Cruz-Correa M et al.
Hereditary Cancer in Clinical Practice, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
de Juan Jiménez I et al.
Familial Cancer, 2013
Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.
Rath MG et al.
Breast Cancer Research and Treatment, 2012
Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population.
de Juan Jiménez I et al.
Familial Cancer, 2012
Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing.
Diez O et al.
Familial Cancer, 2010
Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population.
Esteban Cardeñosa E et al.
Breast Cancer Research and Treatment, 2010
Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1.
Miramar MD et al.
Breast Cancer Research and Treatment, 2008
Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations.
Martínez-Ferrandis JI et al.
Human Mutation, 2003
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.
Díez O et al.
Human Mutation, 2003
Cancer Genetics in the Arab World.
Al Amri WS et al.
Technology in Cancer Research & Treatment, 0