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The American Journal of Surgery, ISSN 0002-9610, 12/2018, Volume 216, Issue 6, pp. 1148 - 1154
Genetic variants of unknown significance (VUS) are an increasingly common result of genetic testing. VUS present dilemmas for treatment and surveillance.... 
Genetic testing | Cancer | Genetic variance reclassification | SURGERY | LYNCH-SYNDROME | GUIDELINES | SEQUENCE VARIANTS | CLASSIFICATION | BRCA1 | COLLEGE | UNCERTAIN SIGNIFICANCE | ASSOCIATION | CLINICAL-SIGNIFICANCE
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 11/2012, Volume 33, Issue 11, pp. 1576 - 1588
Lynch syndrome is associated with germline mutations in DNA mismatch repair (MMR) genes. Up to 30% of DNA changes found are variants of unknown significance... 
MLH1 | variants of unknown significance | Lynch syndrome | functional characterization | Variants of unknown significance | Functional characterization | LYNCH-SYNDROME | MUTL | CELL-FREE ASSAY | SILENT MUTATIONS | DNA MISMATCH REPAIR | MSH2 MISSENSE MUTATIONS | POLYMORPHISMS | MESSENGER-RNA | GENES | GENETICS & HEREDITY | ADENOMATOUS POLYPOSIS | Adaptor Proteins, Signal Transducing - chemistry | MutL Protein Homolog 1 | Humans | Middle Aged | Protein Multimerization | Molecular Sequence Data | Male | Mutation, Missense | DNA Mismatch Repair - genetics | RNA, Messenger - metabolism | Case-Control Studies | Genetic Variation | DNA Mismatch Repair - physiology | DNA Mutational Analysis | Base Sequence | HEK293 Cells | Adult | Female | Nuclear Proteins - genetics | Models, Anatomic | Protein Structure, Tertiary | Recombinant Proteins - metabolism | Amino Acid Sequence | RNA Processing, Post-Transcriptional | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Gene Frequency | RNA, Messenger - genetics | Computational Biology | Mutant Proteins - genetics | Recombinant Proteins - chemistry | Mutant Proteins - metabolism | Nuclear Proteins - metabolism | Recombinant Proteins - genetics | Nuclear Proteins - chemistry | Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism | Pedigree | Mutant Proteins - chemistry | Adaptor Proteins, Signal Transducing - genetics | Aged | Adaptor Proteins, Signal Transducing - metabolism
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 11/2017, Volume 23, Issue 21, pp. 6733 - 6743
Purpose: Patients who inherit a pathogenic loss-of-function genetic variant involving one of the four succinate dehydrogenase (SDH) subunit genes have up to an... 
MITOCHONDRIAL COMPLEX II | ONCOLOGY | SDHD GENE-MUTATIONS | B GENE | GERMLINE SDHA | YEAST MODEL | PARAGANGLIOMA | FLAVOPROTEIN SUBUNIT | GASTROINTESTINAL STROMAL TUMORS | SACCHAROMYCES-CEREVISIAE | DEFICIENCY | Electron Transport Complex II - genetics | Early Detection of Cancer | Saccharomyces cerevisiae - genetics | Humans | Neoplasms - enzymology | Succinate Dehydrogenase - chemistry | Saccharomyces cerevisiae Proteins - genetics | Mutation - genetics | Succinate Dehydrogenase - genetics | Neoplasms - genetics | Electron Transport Complex II - metabolism | Gene Expression Regulation, Enzymologic - genetics | Saccharomyces cerevisiae Proteins - metabolism | Saccharomyces cerevisiae - enzymology | Succinate Dehydrogenase - metabolism | Neoplasms - pathology | Electron Transport Complex II - chemistry | Gene Expression Regulation, Neoplastic - genetics | Saccharomyces cerevisiae Proteins - chemistry | Pathogens | Succinate dehydrogenase | Yeast | Dehydrogenases | Risk groups | Genes | Dehydrogenase | Medical screening | Patients | Reclassification | Pathogenicity | Genetic variance | Mitochondria | Alterations | Computation | Experimental design | Computer applications | Mutation | Protein structure | Tumors | Cancer | mutation | variants of unknown significance | GI stromal tumor | succinate dehydrogenase | paraganglioma
Journal Article
Cancer Biology & Therapy, ISSN 1538-4047, 05/2019, Volume 20, Issue 5, pp. 633 - 641
Heterozygous germline BRCA2 mutations predispose to breast, ovarian, pancreatic and other types of cancer. The presence of a pathogenic mutation in patients or... 
mutation | functional analysis | missense | syngeneic | cancer risk | transcription/repair | cancer biology | variants | BRCA2 | repair | transcription | CLASSIFICATION | RISK | DNA-SEQUENCE VARIANTS | CANCER | BREAST | RAD51 | ONCOLOGY | HOMOLOGY-DIRECTED REPAIR | UNCERTAIN SIGNIFICANCE | MUTATIONS | CLINICAL-SIGNIFICANCE
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2018, Volume 103, Issue 1, pp. 138 - 143
Thoracic aortic aneurysms leading to acute aortic dissections are a preventable cause of premature deaths if individuals at risk can be identified. Individuals... 
variant classification | variants of unknown significance | aortic dissection | heritable thoracic aortic diseases | Report
Journal Article
Oncology Nursing Forum, ISSN 0190-535X, 05/2015, Volume 42, Issue 3, pp. 316 - 318
Accurate risk assessment of developing cancer often includes genetic testing for germline mutations, which has clinical and treatment implications for the... 
variant classification | ONCOLOGY | genetic testing | NURSING | UNCERTAIN SIGNIFICANCE | BRCA1 | variants of unknown significance | Genetic Variation | Genomic Structural Variation | Neoplasms - nursing | Genetic Predisposition to Disease | Neoplasms - genetics | Risk Assessment | Humans | Oncology Nursing - methods
Journal Article
Journal of Molecular Medicine-JMM, ISSN 0946-2716, 2015, Volume 93, Issue 11, pp. 1247 - 1255
Journal Article
European Journal of Haematology, ISSN 0902-4441, 07/2017, Volume 99, Issue 1, pp. 70 - 79
Journal Article