Associated Papers
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-s011.xlsx › BRCA2
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
Characteristics and outcome of BRCA mutated epithelial ovarian cancer patients in Italy: A retrospective multicenter study (MITO 21).
Artioli G et al.
Gynecologic Oncology, 2021
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Figlioli G et al.
Cancers, 2021
33573335 (PubMed )
Supplement: cancers-13-00532-s001.zip › cancers-1044931-supplementary.xlsx › Suppl_Table
Acquired multiple secondary BRCA2 mutations upon PARPi resistance in a metastatic pancreatic cancer patient harboring a BRCA2 germline mutation.
Tao H et al.
American Journal of Translational Research, 2020
Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations.
Wangensteen T et al.
Hereditary Cancer in Clinical Practice, 2019
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
Lost in translation: returning germline genetic results in genome-scale cancer research.
Johns AL et al.
Genome Medicine, 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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