Associated Papers
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc5.xlsx › Sheet_1
Germline mutation analysis and postoperative recurrence risk prediction in breast cancer patients from western China.
Deng Z et al.
Translational Oncology, 2025
40738016 (PubMed )
Supplement: mmc3.xlsx › Table_S2
Multigene germline and somatic testing for epithelial ovarian cancer in China.
Li L et al.
Npj Precision Oncology, 2025
40804290 (PubMed )
Supplement: 41698_2025_1074_MOESM1_ESM.pdf
Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.
Ekram SN et al.
Discover Oncology, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15
Coexisting germline variants of MLH1 and MSH6 in a patient with Lynch syndrome who had uterine and ovarian cancer.
Umegaki S et al.
International Cancer Conference Journal, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM5_ESM.pdf
Tumor-infiltrating lymphocytes are the key determinants of pathological features associated with pathogenic BRCA variants in high-grade serous ovarian carcinoma.
Nguyen-Phan DH et al.
Frontiers in Medicine, 2025
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.
Kwong A et al.
Cancers, 2024
A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa.
Neumayer G et al.
Nature Communications, 2024
38992003 (PubMed )
Supplement: 41467_2024_49400_MOESM8_ESM.zip › Source_Data › Figure_4 › Figure_4H › Figure_4H.xlsx › CO2-48C_iSC
PARPis response and outcome of ovarian cancer patients with BRCA1/2 germline mutation and a history of breast cancer.
Yuan H et al.
Journal of Gynecologic Oncology, 2024
38246184 (PubMed )
Supplement: jgo-35-e51-s001.xls › jgo-35-e51-i003
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1
Genomic landscape of liquid biopsy mutations in TP53 and DNA damage genes in cancer patients.
Vasseur D et al.
Npj Precision Oncology, 2024
38409229 (PubMed )
Supplement: 41698_2024_544_MOESM2_ESM.pdf
Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan.
Cheng SM et al.
Journal of Biomedical Science, 2024
38350919 (PubMed )
Supplement: 12929_2024_1008_MOESM1_ESM.zip › 12929_2024_1008_MOESM1_ESM › Additional_file_1_Table_S2.xlsx › Table_S2
Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing.
Tuncer SB et al.
Pathology, Research and Practice, 2024
Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.
Chen C et al.
Cell Discovery, 2023
38114467 (PubMed )
Supplement: 41421_2023_614_MOESM2_ESM.xlsx › Table_S3
Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.
Youssef ASE et al.
Clinical and Experimental Medicine, 2023
Efficacy of olaparib in advanced cancers with germline or somatic mutations in BRCA1, BRCA2, CHEK2 and ATM, a Belgian Precision tumor-agnostic phase II study.
Joris S et al.
Esmo Open, 2023
Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.
Wen H et al.
Jama Network Open, 2023
37523182 (PubMed )
Supplement: jamanetwopen-e2326437-s001.pdf
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-s002.xlsx › BRCA1
Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer.
Wallander K et al.
Cancers, 2023
36831507 (PubMed )
Supplement: cancers-15-01160-s001.zip › TableS5.xlsx › Sheet1
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma.
Horackova K et al.
Cancers, 2022
36612198 (PubMed )
Supplement: cancers-15-00201-s001.zip › cancers-2100821-supplementary.pdf
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
Bisgin A et al.
Breast (edinburgh, Scotland), 2022
35753294 (PubMed )
Supplement: mmc1.pdf
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST3_Known_Somatic_Variants
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 › BRCA1
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
Liu J et al.
Genome Medicine, 2022
35209950 (PubMed )
Supplement: 13073_2022_1027_MOESM22_ESM.xls › Sheet1
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
ElBiad O et al.
Bmc Cancer, 2022
BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome.
Le TN et al.
Genes, 2022
Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women.
Agha N et al.
Bmc Cancer, 2022
BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.
Fu X et al.
Frontiers in Cell and Developmental Biology, 2022
35300412 (PubMed )
Supplement: DataSheet1.xlsx › Sheet1
Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.
Azribi F et al.
Bmc Cancer, 2021
Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population.
Dong H et al.
Journal of Medical Genetics, 2021
Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan.
Abdel-Razeq H et al.
Scientific Reports, 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
Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions.
Su Y et al.
Frontiers in Genetics, 2021
Germline and Somatic BRCA1/2 Gene Mutational Status and Clinical Outcomes in Epithelial Peritoneal, Ovarian, and Fallopian Tube Cancer: Over a Decade of Experience in a Single Institution in Korea.
Kim SI et al.
Cancer Research and Treatment, 2020
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
Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.
Incorvaia L et al.
Cancers, 2020
32380732 (PubMed )
Supplement: cancers-12-01158-s001.pdf
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31853058 (PubMed )
Supplement: 41436_2019_729_MOESM2_ESM.xls › Sheet1
Targeted deep sequencing revealed variants in cell-free DNA of hormone receptor-positive metastatic breast cancer patients.
Keup C et al.
Cellular and Molecular Life Sciences : Cmls, 2020
31254045 (PubMed )
Supplement: 18_2019_3189_MOESM5_ESM.xlsx › Tabelle1
Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.
Shao D et al.
Cancer Science, 2020
31742824 (PubMed )
Supplement: CAS-111-647-s001.xlsx › List_of_pathogenic_mutations
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