Associated Papers
Whole Exome Sequencing-identified Germline Variants Underlie High Familial Risk and Early-onset Colorectal Cancer in Taiwan.
Huang YC et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax.
Lee NY et al.
Genetics in Medicine : Official Journal of the American College of Medical 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
First report of medulloblastoma in a patient with MUTYH-associated polyposis.
Villy MC et al.
Neuropathology and Applied Neurobiology, 2023
Clinical implications of conflicting variant interpretations in the cancer genetics clinic.
Zukin E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Multigene testing panels reveal pathogenic variants in sporadic breast cancer patients in northern China.
Liu Y et al.
Frontiers in Genetics, 2023
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
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
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
Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data.
Hernandez F et al.
Cold Spring Harbor Molecular Case Studies, 2022
A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.
Chiang YC et al.
Biomedicines, 2021
Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
Lertwilaiwittaya P et al.
Breast Cancer Research and Treatment, 2021
Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer.
Oh J et al.
Journal of Cancer, 2021
Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?
Lovejoy LA et al.
Genes, 2020
Targeted next-generation sequencing as a diagnostic tool in gastrointestinal system cancer/polyposis patients.
Yalcintepe S et al.
Tumori, 2020
Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.
Lang GT et al.
Annals of Translational Medicine, 2020
Older breast cancer survivors may harbor hereditary cancer predisposition pathogenic variants and are at risk for clonal hematopoiesis.
Slavin TP et al.
Journal of Geriatric Oncology, 2020
Association of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into Malignancy
Mahasneh A et al.
Iranian Biomedical Journal, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Clinical characterization and mutation spectrum in patients with familial adenomatous polyposis in China.
Li N et al.
Journal of Gastroenterology and Hepatology, 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
Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.
Liu Q et al.
Journal of Cancer, 2019
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Exomic variants of an elderly cohort of Brazilians in the ABraOM database.
Naslavsky MS et al.
Human Mutation, 2017
A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.
Zhang J et al.
Oncotarget, 2017
Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients.
Taki K et al.
Familial Cancer, 2016
Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.
Lin PH et al.
Oncotarget, 2016
Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.
Jang MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.
Hirotsu Y et al.
Molecular Genetics & Genomic Medicine, 2015
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis.
Landon M et al.
Clinical Genetics, 2015
Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.
Yang X et al.
Plos One, 2015
MUTYH-associated colorectal cancer and adenomatous polyposis.
Yamaguchi S et al.
Surgery Today, 2014
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.
Pin E et al.
International Journal of Cancer, 2013
Genes and SNPs associated with non-hereditary and hereditary colorectal cancer.
Nassiri M et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2013
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.
Abdelmaksoud-Dammak R et al.
Familial Cancer, 2012
Frequent mutation in North African patients with MUTYH-associated polyposis.
Lefevre JH et al.
Clinical Genetics, 2011
Leiden Open Variation Database of the MUTYH gene.
Out AA et al.
Human Mutation, 2010
Genetic testing for hereditary colorectal cancer.
Hampel H
Surgical Oncology Clinics of North America, 2009
Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population.
Tao H et al.
Cancer Science, 2008
Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas.
Kim DW et al.
International Journal of Colorectal Disease, 2007
Modulation of oxidative mutagenesis and carcinogenesis by polymorphic forms of human DNA repair enzymes.
Nohmi T et al.
Mutation Research, 2005
A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus.
Tao H et al.
Carcinogenesis, 2004