Associated Papers
Health Care Impact of Comprehensive Genomic Profiling of Solid Tumors in Patient Management Using POWER (Precision Oncology at Western University).
Bhai P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
A long-term glioblastoma survivor with Lynch syndrome: a case report of tumor molecular and microenvironment characterization.
Zhou Y et al.
Discover Oncology, 2025
40768092 (PubMed )
Supplement: 12672_2025_3361_MOESM1_ESM.xlsx › somatic
Genetic testing for BRCA1/2 variants in Northern African women with ovarian and breast cancers: a multicentre study of an under-represented ancestry.
Shohdy KS et al.
Esmo Open, 2025
40714512 (PubMed )
Supplement: mmc1.pdf
Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system.
Benet-Pagès A et al.
Genetics in Medicine Open, 2025
40027238 (PubMed )
Supplement: mmc1.xlsx › Tabelle1
Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.
Makhetha M et al.
South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_6.XLSX › 628_all_list_group_2
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model.
Guo Q et al.
Journal of Human Genetics, 2023
Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers.
Mori T et al.
Cancer Medicine, 2023
36345163 (PubMed )
Supplement: CAM4-12-6594-s002.xlsx › Supp_Table1
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
35979650 (PubMed )
Supplement: HUMU-43-1921-s002.XLSX › Supp_T3
Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test.
Kim YN et al.
Cancers, 2022
35884469 (PubMed )
Supplement: cancers-14-03406-s001.zip › cancers-1792460-supplementary.pdf
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S16
Multigene Panel Sequencing Reveals Cancer-Specific and Common Somatic Mutations in Colorectal Cancer Patients: An Egyptian Experience.
Youssef ASE et al.
Current Issues in Molecular Biology, 2022
35723313 (PubMed )
Supplement: cimb-44-00090-s001.zip › Table_S3.xlsx › Variants
BRCA 1/2 Germline Mutation Predicts the Treatment Response of FOLFIRINOX with Pancreatic Ductal Adenocarcinoma in Korean Patients.
Park JH et al.
Cancers, 2022
35008403 (PubMed )
Supplement: cancers-14-00236-s001.zip › cancers-1469089-supplementary.xlsx › supple_Table_S1
Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.
Patruno M et al.
Cancers, 2021
34572941 (PubMed )
Supplement: cancers-13-04714-s001.zip › cancers-1331888-supplementary.pdf
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.
Choi YY et al.
Scientific Reports, 2021
34285288 (PubMed )
Supplement: 41598_2021_94292_MOESM1_ESM.xlsx › Table_S2.
A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.
Park KS et al.
Cancers, 2021
34063308 (PubMed )
Supplement: cancers-13-02192-s001.zip › cancers-1174339-supplementary.xlsx › Table_S7
BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.
Chian J et al.
Frontiers in Molecular Biosciences, 2021
34235180 (PubMed )
Supplement: Table3.XLSX › BRCA2
Brca2 deficiency drives gastrointestinal tumor formation and is selectively inhibited by mitomycin C.
Chen X et al.
Cell Death & Disease, 2020
32980867 (PubMed )
Supplement: 41419_2020_3013_MOESM2_ESM.xlsx › BRCA2-mutant
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 2020
32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › Momozawa_et_al.
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.
Momozawa Y et al.
Journal of the National Cancer Institute, 2020
31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_6
GeneReader NGS System Is a Useful Sequencing Platform for Clinical Testing of BRCA1 and BRCA2.
Lee EJ et al.
Annals of Clinical and Laboratory Science, 2020
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_
Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
Fraile-Bethencourt E et al.
Frontiers in Genetics, 2019
31191615 (PubMed )
Supplement: Data_Sheet_1.PDF
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1
Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.
Jiang J et al.
Journal of Personalized Medicine, 2018
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.
Park JS et al.
Cancer Research and Treatment, 2017
28111427 (PubMed )
Supplement: crt-2016-433-supple1.xlsx › S1_Table
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.
Akbari MR et al.
Journal of Medical Genetics, 2011
A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.
Coulet F et al.
Genetic Testing and Molecular Biomarkers, 2010
Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.
Lee E et al.
Breast Cancer Research : Bcr, 2008
18284688 (PubMed )
Supplement: bcr1865-S3.doc
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