Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
40403485 (PubMed )
Supplement: mmc2.xlsx › BRCA1_2_findings
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 › MNS_only
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA2
Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.
Stella S et al.
Cancer Management and Research, 2022
Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.
Solano AR et al.
Cancers, 2021
34072659 (PubMed )
Supplement: cancers-13-02711-s001.zip › cancers-1233266-supplementary.pdf
Olaparib in hormone receptor-positive, HER2-negative metastatic breast cancer with a somatic BRCA2 mutation.
Schwartzberg LS et al.
Therapeutic Advances in Medical Oncology, 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
BRCA1/2 pathogenic variants in triple-negative versus luminal-like breast cancers: genotype-phenotype correlation in a cohort of 531 patients.
Incorvaia L et al.
Therapeutic Advances in Medical Oncology, 2020
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y et al.
Human Mutation, 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
30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › BRCA2_ethnic_sources_
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