Associated Papers
Processed Transcript Insertion as a Novel Germline Mutational Mechanism in BRCA1-Associated Hereditary Breast Cancer.
Bozsik A et al.
Cancers, 2025
The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.
Shaw CA et al.
American Journal of Human Genetics, 2025
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
An Investigation of the BRCA2 Met1915Thr Polymorphism in Azerbaijani Breast Cancer Patients.
Safarzade Z et al.
Medical Sciences (basel, Switzerland), 2025
A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.
Das K et al.
Scientific Reports, 2025
Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.
Handoko et al.
Scientific Reports, 2025
The Ataxia-telangiectasia mutated (ATM) is the most important gene for repairing the DNA in Myelodysplastic Neoplasm.
Pinheiro RF et al.
Dna Repair, 2025
Genomic instability in ovarian cancer: Through the lens of single nucleotide polymorphisms.
Canchi Sistla H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.
de Amorim IFG et al.
Plos One, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam.
Matusin SNI et al.
Plos One, 2025
A novel missense mutation c.1381T>C: p.(S461P) in POLE causes multiple molecular features of endometrial carcinoma in China: a case report.
Li Y et al.
Frontiers in Oncology, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Unveiling the molecular profile of a prostate carcinoma: implications for personalized medicine.
Agostini M et al.
Biology Direct, 2024
Benign polymorphisms in the BRCA genes with linkage disequilibrium is associated with cancer characteristics.
Lee KT et al.
Cancer Science, 2024
Whole‑exome sequencing insights into synchronous bilateral breast cancer with discordant molecular subtypes.
Hu SH et al.
Oncology Letters, 2024
Successful rapid improvement of acute respiratory distress syndrome induced by EGFR-mutated non-small cell lung cancer with almonertinib: a case report.
Sun C et al.
Bmc Pulmonary Medicine, 2024
Inter-BRCT linker is probably the most intolerant region of the BRCA1 BRCT domain.
Yadegari F et al.
Journal of Biomolecular Structure & Dynamics, 2024
Breast Cancer High-Penetrance Genes BRCA1 and BRCA2 Mutations Using Next-Generation Sequencing Among Iraqi Kurdish Women.
Hassan AN et al.
Cureus, 2024
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
Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.
Lin H et al.
Heliyon, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.
Wu Z et al.
Bmc Cancer, 2024
Deciphering DNA repair gene mutational landscape in uterine corpus endometrial carcinoma patients using next generation sequencing.
Lou J et al.
American Journal of Cancer Research, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Exploration of BRCA1 and BRCA2 mutations in gastric cancer patients through next generation sequencing: implications for diagnosis and therapy.
Ahmed I et al.
American Journal of Translational Research, 2024
Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan.
Muhammad N et al.
Hereditary Cancer in Clinical Practice, 2023
Frequencies of Diagnostically Significant Polymorphisms of Hereditary Breast Cancer Forms in BRCA1 and BRCA2 Genes in the Kazakh Population.
Svyatova G et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2023
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 2023
CLINICAL SIGNIFICANCE OF BRCA1 GENE SEQUENCING AND ITS PROMOTER METHYLATION TESTING IN THE SEARCH STRATEGY FOR THERAPEUTIC TARGETS IN BREAST CANCER TREATMENT.
Fishchuk L et al.
Experimental Oncology, 2023
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Derivation of Breast Cancer Patient Derived Human Induced Pluripotent Stem Cell Line (YBLi006-A) with FANC-BRCA Gene Mutations: A Resource for Precision & Personalized Medicine.
Chitrangi S et al.
Stem Cell Research, 2023
Mutations of BRCA1, BRCA2, and PALB2 Genes in Breast Tumor Tissue: Relationship with the Effectiveness of Neoadjuvant Chemotherapy and Disease Prognosis.
Tsyganov MM et al.
Genes, 2023
POLE exonuclease domain mutations in endometrial carcinoma: a case report.
Pasciuto MP et al.
Pathologica, 2023
Olaparib-Resistant BRCA2MUT Ovarian Cancer Cells with Restored BRCA2 Abrogate Olaparib-Induced DNA Damage and G2/M Arrest Controlled by the ATR/CHK1 Pathway for Survival.
Biegała Ł et al.
Cells, 2023
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
DNA Damage and Its Role in Cancer Therapeutics.
Moon J et al.
International Journal of Molecular Sciences, 2023
Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania.
Rweyemamu LP et al.
Cancer Medicine, 2023