Associated Papers
Germline variant spectrum of hereditary cancer susceptibility genes in a Chinese cohort.
Xiong C et al.
Human Genomics, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
40332002 (PubMed )
Supplement: ijms-26-03509-s001.zip › Table_S1._Medically_ACMG_actionable_findings_and_carrier_status_identified_in_our_study.xlsx › Allele_frequencies
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
Pitiot AS et al.
Clinical Genetics, 2024
Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.
Ho WK et al.
The Lancet Regional Health. Western Pacific, 2024
38333895 (PubMed )
Supplement: mmc1.xlsx › Table_S5
Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.
Carvalho NA et al.
Journal of Medical Genetics, 2023
37536918 (PubMed )
Supplement: jmg-2023-109269supp001.xlsx › SuppTable_3
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
36385461 (PubMed )
Supplement: IJC-152-1159-s010.xlsx › Asian_only
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021
34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf
Implementing NGS-based BRCA tumour tissue testing in FFPE ovarian carcinoma specimens: hints from a real-life experience within the framework of expert recommendations.
Rivera D et al.
Journal of Clinical Pathology, 2021
Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.
Sandoval RL et al.
Plos One, 2021
A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer.
de Souza Timoteo AR et al.
Breast Cancer Research and Treatment, 2018
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K et al.
Jama Network Open, 2018
30646163 (PubMed )
Supplement: jamanetwopen-1-e182140-s001.pdf
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
Palmero EI et al.
Scientific Reports, 2018
29907814 (PubMed )
Supplement: 41598_2018_27315_MOESM1_ESM.xlsx › Sup_Table_S2_-_BRCA2
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
28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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