Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.
Li Y et al.
British Journal of Haematology, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Multiple Primary Cancers as an Independent Criterion for Germline Testing: Comparison with Guideline-Based Criteria.
Shin K et al.
Journal of Clinical Medicine, 2025
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.
Stubbins RJ et al.
Leukemia, 2025
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
Short Report: The Variants in CHEK2 in Metastatic Uveal Melanoma.
Terai M et al.
Journal of Clinical Medicine, 2025
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.
Riviere-Cazaux C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Comprehensive characterization of early-onset lung cancer, in Chinese young adults.
Tian Y et al.
Nature Communications, 2025
Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast.
Huang H et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Understanding the prevalence of germline oncogenic biomarker variants across the Indian population.
Vatsyayan A et al.
Journal of Genetics, 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
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.
Jiang YJ et al.
Frontiers in Oncology, 2024
Case report: Germline CHEK2 mutation is associated with a giant cell glioblastoma.
Bi Y et al.
Frontiers in Oncology, 2024
Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
Chrysafi P et al.
Cancers, 2023
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Hanson H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients: A case report.
He CC et al.
World Journal of Gastroenterology, 2023
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients.
Jiang LX et al.
World Journal of Gastroenterology, 2023
Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.
Lim BWX et al.
Journal of the National Cancer Institute, 2023
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
He P et al.
Frontiers in Oncology, 2023
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
The impact of oophorectomy on survival from breast cancer in patients with CHEK2 mutations.
Tomiczek-Szwiec J et al.
British Journal of Cancer, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.
Kasugai Y et al.
Cancer Science, 2022
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
Liu J et al.
Genome Medicine, 2022
Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer.
Ji JH et al.
Npj Breast Cancer, 2022
Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.
Boonen RACM et al.
Cancer Research, 2022
Primary uterine broad ligament ependymoma with CHEK2 p.H371Y germline mutation: A CARE-compliant case report uterine broad ligament ependymoma.
Yin J et al.
The Journal of Obstetrics and Gynaecology Research, 2022
Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.
Sánchez-Ares M et al.
Frontiers in Endocrinology, 2022
A Germline Mutation in ATR Is Associated With Lung Adenocarcinoma in Asian Patients.
Bao G et al.
Frontiers in Oncology, 2022
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
Comprehensive genomic profiling of upper tract urothelial carcinoma and urothelial carcinoma of the bladder identifies distinct molecular characterizations with potential implications for targeted therapy & immunotherapy.
Tang Q et al.
Frontiers in Immunology, 2022
Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.
Yadav S et al.
Journal of the National Cancer Institute, 2021
A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric-cancer patients.
Zhang YJ et al.
Gastroenterology Report, 2021
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.
Choi YY et al.
Scientific Reports, 2021
Incidental findings from cancer next generation sequencing panels.
Maani N et al.
Npj Genomic Medicine, 2021
Genetic alterations and their therapeutic implications in epithelial ovarian cancer.
Lapke N et al.
Bmc Cancer, 2021
Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.
Cameselle-Teijeiro JM et al.
Endocrine Pathology, 2021
Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.
Ye Y et al.
Experimental Hematology & Oncology, 2021
KinaseMD: kinase mutations and drug response database.
Hu R et al.
Nucleic Acids Research, 2021
Multigene Panel Testing for Hereditary Cancer and Genetic Counseling.
Lee ES et al.
Advances in Experimental Medicine and Biology, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021