Associated Papers
Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer-Predisposing Factors in Familial Early-Onset Colorectal Cancer.
Bagheri B et al.
The Kaohsiung Journal of Medical Sciences, 2026
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
Universal Screening for Lynch Syndrome and molecular classification of patients with endometrial cancer.
Yan G et al.
International Journal of Surgery (london, England), 2025
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
McGlacken-Byrne SM et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Pathogenic germline variants in mismatch repair genes in patients with microsatellite instability-high gastric cancer.
Yun JH et al.
Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2025
Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.
van Dal M et al.
Journal of Cutaneous Pathology, 2024
Chemoproteogenomic stratification of the missense variant cysteinome.
Desai H et al.
Nature Communications, 2024
Next-generation sequencing identified that RET variation associates with lymph node metastasis and the immune microenvironment in thyroid papillary carcinoma.
Huang Y et al.
Bmc Endocrine Disorders, 2024
Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer.
Kim B et al.
Annals of Laboratory Medicine, 2024
The clinical utility of next generation sequencing in endometrial cancer: focusing on molecular subtyping and lynch syndrome.
Guo Y et al.
Frontiers in Genetics, 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
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Walker R et al.
Cancers, 2023
Multi-omic stratification of the missense variant cysteinome.
Desai H et al.
Biorxiv : the Preprint Server for Biology, 2023
A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation.
Wolf K et al.
Nucleic Acids Research, 2023
Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.
Fujitani H et al.
European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2023
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Walker R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.
Huang Y et al.
Journal of Personalized Medicine, 2022
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
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
High frequency of PIK3CA and TERT promoter mutations in fibromatosis-like spindle cell carcinomas.
Zhong S et al.
Journal of Clinical Pathology, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Fundamental immune-oncogenicity trade-offs define driver mutation fitness.
Hoyos D et al.
Nature, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.
Horiuchi Y et al.
Human Genetics, 2021
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
Kim B et al.
Scientific Reports, 2020
A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.
Kang T et al.
Breast Cancer Research : Bcr, 2020
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.
Houlleberghs H et al.
Journal of Medical Genetics, 2020
Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.
Chen Z et al.
Molecular Genetics & Genomic Medicine, 2020
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.
Ma H et al.
Cancer Biomarkers : Section a of Disease Markers, 2020
Characterizations of Gene Alterations in Melanoma Patients from Chinese Population.
Luo Y et al.
Biomed Research International, 2020
Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.
Kiyozumi Y et al.
Cancer Medicine, 2019
Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population.
Chang YS et al.
Cancer Medicine, 2019
Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
Wang J et al.
Cancer Medicine, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.
Gong R et al.
Cancer Management and Research, 2019
[Concurrent APC and MLH1mutations identified in a family affected with familial adenomatous polyposis].
Shang C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
The role of the cancer stem cell marker CD271 in DNA damage response and drug resistance of melanoma cells.
Redmer T et al.
Oncogenesis, 2017
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
Natarajan P et al.
Science Translational Medicine, 2016