Human Mutation, ISSN 1059-7794, 2013, Volume 34, Issue 12, pp. 1721 - 1726
The advent of massive parallel sequencing is rapidly changing the strategies employed for the genetic diagnosis and research of rare diseases that involve a...
genome diagnostics | exome sequencing | NGS | heterogeneous diseases | diagnostic yield | Diagnostic yield | Heterogeneous diseases | Genome diagnostics | Exome sequencing | ABCA4 | MISSENSE MUTATIONS | GENOME | COLORECTAL-CANCER | GENES | GENETICS & HEREDITY | GERMLINE MUTATIONS | CLINICAL-PRACTICE | Exome | Genetic Testing | Humans | Genetic Diseases, Inborn - genetics | Sequence Analysis, DNA - standards | High-Throughput Nucleotide Sequencing - methods | Genetic Counseling | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | High-Throughput Nucleotide Sequencing - standards | Comparative analysis | Nucleotide sequencing | DNA sequencing
genome diagnostics | exome sequencing | NGS | heterogeneous diseases | diagnostic yield | Diagnostic yield | Heterogeneous diseases | Genome diagnostics | Exome sequencing | ABCA4 | MISSENSE MUTATIONS | GENOME | COLORECTAL-CANCER | GENES | GENETICS & HEREDITY | GERMLINE MUTATIONS | CLINICAL-PRACTICE | Exome | Genetic Testing | Humans | Genetic Diseases, Inborn - genetics | Sequence Analysis, DNA - standards | High-Throughput Nucleotide Sequencing - methods | Genetic Counseling | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | High-Throughput Nucleotide Sequencing - standards | Comparative analysis | Nucleotide sequencing | DNA sequencing
Journal Article
Human mutation, ISSN 1059-7794, 2016, Volume 37, Issue 11, pp. 1162 - 1179
Monoallelic PMS2 germline mutations cause 5%-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60%...
CMMRD | PMS2 | pseudogenes | mismatch repair | immunohistochemistry | MLH1 | missense variants | Lynch syndrome | PROMOTER HYPERMETHYLATION | CFR PARTICIPANTS | EUROPEAN CONSORTIUM CARE | PSEUDOGENE INTERFERENCE | NONPOLYPOSIS COLON-CANCER | GENE | COLORECTAL-CANCER | GENETICS & HEREDITY | 3' DELETIONS | SYNDROME FAMILIES | Genetic Predisposition to Disease | Microsatellite Instability | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Humans | Brain Neoplasms - genetics | Neoplastic Syndromes, Hereditary - metabolism | DNA Mutational Analysis - methods | Brain Neoplasms - metabolism | Genetic Variation | Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism | Netherlands | Mismatch Repair Endonuclease PMS2 - metabolism | Germ-Line Mutation | Neoplastic Syndromes, Hereditary - genetics | Mismatch Repair Endonuclease PMS2 - genetics | Colorectal Neoplasms - metabolism | Cohort Studies | Immunohistochemistry | Genetic research | Genetic aspects | RNA | Gene mutations | Analysis | Yeast | Genetic disorders | Mutation | Genetic recombination | Cancer
CMMRD | PMS2 | pseudogenes | mismatch repair | immunohistochemistry | MLH1 | missense variants | Lynch syndrome | PROMOTER HYPERMETHYLATION | CFR PARTICIPANTS | EUROPEAN CONSORTIUM CARE | PSEUDOGENE INTERFERENCE | NONPOLYPOSIS COLON-CANCER | GENE | COLORECTAL-CANCER | GENETICS & HEREDITY | 3' DELETIONS | SYNDROME FAMILIES | Genetic Predisposition to Disease | Microsatellite Instability | Colorectal Neoplasms - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Humans | Brain Neoplasms - genetics | Neoplastic Syndromes, Hereditary - metabolism | DNA Mutational Analysis - methods | Brain Neoplasms - metabolism | Genetic Variation | Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism | Netherlands | Mismatch Repair Endonuclease PMS2 - metabolism | Germ-Line Mutation | Neoplastic Syndromes, Hereditary - genetics | Mismatch Repair Endonuclease PMS2 - genetics | Colorectal Neoplasms - metabolism | Cohort Studies | Immunohistochemistry | Genetic research | Genetic aspects | RNA | Gene mutations | Analysis | Yeast | Genetic disorders | Mutation | Genetic recombination | Cancer
Journal Article
Nature Genetics, ISSN 1061-4036, 2015, Volume 47, Issue 6, pp. 668 - 671
The genetic cause underlying the development of multiple colonic adenomas, the premalignant precursors of colorectal cancer (CRC), frequently remains...
OXIDATIVE DNA-DAMAGE | PREDISPOSITION | OGG1 | GENETICS & HEREDITY | CARCINOMAS | NEIL1 | MUTYH | Genetic Predisposition to Disease | Genetic Association Studies | Humans | Middle Aged | Codon, Nonsense | Case-Control Studies | Homozygote | DNA Mutational Analysis | Pedigree | DNA Repair | Deoxyribonuclease (Pyrimidine Dimer) - genetics | Germ-Line Mutation | Female | Adenomatous Polyposis Coli - genetics | Gene mutations | Genetic susceptibility | Colorectal cancer | Genetic research | Development and progression | Genetic aspects | Research | Identification and classification | Health aspects | Mutation | DNA repair | Genes | Tumors
OXIDATIVE DNA-DAMAGE | PREDISPOSITION | OGG1 | GENETICS & HEREDITY | CARCINOMAS | NEIL1 | MUTYH | Genetic Predisposition to Disease | Genetic Association Studies | Humans | Middle Aged | Codon, Nonsense | Case-Control Studies | Homozygote | DNA Mutational Analysis | Pedigree | DNA Repair | Deoxyribonuclease (Pyrimidine Dimer) - genetics | Germ-Line Mutation | Female | Adenomatous Polyposis Coli - genetics | Gene mutations | Genetic susceptibility | Colorectal cancer | Genetic research | Development and progression | Genetic aspects | Research | Identification and classification | Health aspects | Mutation | DNA repair | Genes | Tumors
Journal Article
Genes, Chromosomes & Cancer, ISSN 1045-2257, 2019, Volume 58, Issue 8, pp. 541 - 550
Vascular malformations are part of overgrowth syndromes characterized by somatic mosaic mutations or rarely by germline mutations. Due to their similarities...
molecular genetics | vascular malformations | overgrowth syndromes | mosaic mutations | DIAGNOSIS | ANOMALIES | DISORDERS | SOMATIC MUTATIONS | ONCOLOGY | GENETICS & HEREDITY | SPECTRUM | VENOUS MALFORMATION | ACTIVATING MUTATIONS | SIROLIMUS | MOSAICISM | Molecular genetics | Gene mutations | Analysis | Formaldehyde | TOR protein | Paraffins | AKT1 protein | Therapeutic applications | Genes | MAP kinase | Cases (containers) | Paraffin | Next-generation sequencing | Gene frequency | Alleles | Mutation | PTEN protein
molecular genetics | vascular malformations | overgrowth syndromes | mosaic mutations | DIAGNOSIS | ANOMALIES | DISORDERS | SOMATIC MUTATIONS | ONCOLOGY | GENETICS & HEREDITY | SPECTRUM | VENOUS MALFORMATION | ACTIVATING MUTATIONS | SIROLIMUS | MOSAICISM | Molecular genetics | Gene mutations | Analysis | Formaldehyde | TOR protein | Paraffins | AKT1 protein | Therapeutic applications | Genes | MAP kinase | Cases (containers) | Paraffin | Next-generation sequencing | Gene frequency | Alleles | Mutation | PTEN protein
Journal Article
PLoS genetics, ISSN 1553-7390, 2013, Volume 9, Issue 3, p. e1003212
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a...
CONSORTIUM | COMMON VARIANTS | POPULATION | INVESTIGATORS | MODIFIERS | SUBTYPES | SUSCEPTIBILITY ALLELES | GENETICS & HEREDITY | GENETIC-VARIANTS | SELECTION | ZNF365 | Genetic Predisposition to Disease | Genome-Wide Association Study | Prognosis | Humans | Middle Aged | Risk Factors | Ovarian Neoplasms - pathology | Genotype | Ovarian Neoplasms - genetics | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Female | Heterozygote | Polymorphism, Single Nucleotide | Mutation | BRCA2 Protein - genetics | Gene mutations | Genomics | Physiological aspects | Breast cancer | Genetic aspects | Research | Risk factors | Ovarian cancer | Cancer | Cà ncer d'ovari | Cà ncer de mama | Malalties heredità ries | Genètica humana | Genetic diseases | Human genetics | Life Sciences | Medical and Health Sciences | Medicin och hälsovetenskap | Medical research
CONSORTIUM | COMMON VARIANTS | POPULATION | INVESTIGATORS | MODIFIERS | SUBTYPES | SUSCEPTIBILITY ALLELES | GENETICS & HEREDITY | GENETIC-VARIANTS | SELECTION | ZNF365 | Genetic Predisposition to Disease | Genome-Wide Association Study | Prognosis | Humans | Middle Aged | Risk Factors | Ovarian Neoplasms - pathology | Genotype | Ovarian Neoplasms - genetics | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Female | Heterozygote | Polymorphism, Single Nucleotide | Mutation | BRCA2 Protein - genetics | Gene mutations | Genomics | Physiological aspects | Breast cancer | Genetic aspects | Research | Risk factors | Ovarian cancer | Cancer | Cà ncer d'ovari | Cà ncer de mama | Malalties heredità ries | Genètica humana | Genetic diseases | Human genetics | Life Sciences | Medical and Health Sciences | Medicin och hälsovetenskap | Medical research
Journal Article
Scientific Reports, ISSN 2045-2322, 2019, Volume 9, Issue 1, pp. 8239 - 13
Mutations in the RAS genes are identified in a variety of clinical settings, ranging from somatic mutations in oncology to germline mutations in developmental...
Amino acids | GTP | Mutation | Guanine nucleotide exchange factor | Guanine | K-Ras protein
Amino acids | GTP | Mutation | Guanine nucleotide exchange factor | Guanine | K-Ras protein
Journal Article
Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 1, pp. 112 - 117
Lynch syndrome patients are susceptible to colorectal and endometrial cancers owing to inactivating germline mutations in mismatch repair genes, including MSH2...
PROMOTER HYPERMETHYLATION | HNPCC | NONPOLYPOSIS COLORECTAL-CANCER | REPAIR GENE HMSH2 | ANTISENSE RNA | TRANSCRIPTION | GENETICS & HEREDITY | MLH1 GERMLINE EPIMUTATIONS | TUMOR | HMLH1 | CARCINOMA | Cell Adhesion Molecules - genetics | Microsatellite Instability | Humans | Middle Aged | Molecular Sequence Data | Male | Promoter Regions, Genetic - genetics | Epithelial Cell Adhesion Molecule | DNA Methylation | Netherlands | Base Sequence | China | Inheritance Patterns - genetics | Adult | Female | Antigens, Neoplasm - genetics | European Continental Ancestry Group - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Exons - genetics | MutS Homolog 2 Protein - genetics | Open Reading Frames - genetics | Asian Continental Ancestry Group | Pedigree | Adolescent | Alleles | Family | Sequence Deletion - genetics | Gene mutations | Colorectal cancer | Genetic aspects | Research | Methylation | Health aspects | Risk factors | Families & family life | Mutation | Minority & ethnic groups | Genes
PROMOTER HYPERMETHYLATION | HNPCC | NONPOLYPOSIS COLORECTAL-CANCER | REPAIR GENE HMSH2 | ANTISENSE RNA | TRANSCRIPTION | GENETICS & HEREDITY | MLH1 GERMLINE EPIMUTATIONS | TUMOR | HMLH1 | CARCINOMA | Cell Adhesion Molecules - genetics | Microsatellite Instability | Humans | Middle Aged | Molecular Sequence Data | Male | Promoter Regions, Genetic - genetics | Epithelial Cell Adhesion Molecule | DNA Methylation | Netherlands | Base Sequence | China | Inheritance Patterns - genetics | Adult | Female | Antigens, Neoplasm - genetics | European Continental Ancestry Group - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Exons - genetics | MutS Homolog 2 Protein - genetics | Open Reading Frames - genetics | Asian Continental Ancestry Group | Pedigree | Adolescent | Alleles | Family | Sequence Deletion - genetics | Gene mutations | Colorectal cancer | Genetic aspects | Research | Methylation | Health aspects | Risk factors | Families & family life | Mutation | Minority & ethnic groups | Genes
Journal Article
Lancet Oncology, The, ISSN 1470-2045, 2011, Volume 12, Issue 1, pp. 49 - 55
Summary Background Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6 , and PMS2 mismatch-repair genes and leads to a high risk of colorectal...
Hematology, Oncology and Palliative Medicine | STEM-CELLS | METHYLATION | HYPERMETHYLATION | MANAGEMENT | MSH2 | ONCOLOGY | REPAIR GENE HMSH2 | MUTATION CARRIERS | FAMILIES | SURVEILLANCE | TACSTD1 | Antigens, Neoplasm - genetics | Promoter Regions, Genetic | Sequence Deletion | Cell Adhesion Molecules - genetics | Colorectal Neoplasms - genetics | Humans | Middle Aged | Endometrial Neoplasms - etiology | Male | Risk | MutS Homolog 2 Protein - genetics | Epithelial Cell Adhesion Molecule | Colorectal Neoplasms - etiology | Endometrial Neoplasms - genetics | Gene Deletion | Adolescent | Adult | Female | Aged | Cohort Studies | Prevention | Molecular genetics | Endometrial cancer | Gene mutations | Oncology, Experimental | Research | Universities and colleges | Biometry | Cancer
Hematology, Oncology and Palliative Medicine | STEM-CELLS | METHYLATION | HYPERMETHYLATION | MANAGEMENT | MSH2 | ONCOLOGY | REPAIR GENE HMSH2 | MUTATION CARRIERS | FAMILIES | SURVEILLANCE | TACSTD1 | Antigens, Neoplasm - genetics | Promoter Regions, Genetic | Sequence Deletion | Cell Adhesion Molecules - genetics | Colorectal Neoplasms - genetics | Humans | Middle Aged | Endometrial Neoplasms - etiology | Male | Risk | MutS Homolog 2 Protein - genetics | Epithelial Cell Adhesion Molecule | Colorectal Neoplasms - etiology | Endometrial Neoplasms - genetics | Gene Deletion | Adolescent | Adult | Female | Aged | Cohort Studies | Prevention | Molecular genetics | Endometrial cancer | Gene mutations | Oncology, Experimental | Research | Universities and colleges | Biometry | Cancer
Journal Article
Journal of the National Cancer Institute, ISSN 0027-8874, 07/2019
Journal Article
British journal of cancer, ISSN 0007-0920, 2019, Volume 121, Issue 1, pp. 34 - 36
Advances in molecular tumour diagnostics and the number of targeted therapies increase rapidly. Molecular tumour boards (MTBs) are designated to interpret...
UNIVERSITY-OF-CALIFORNIA | IMPACT | ONCOLOGY | MEDICINE | Medical research | Cost assessments | Diagnostic tests | Quality control | Clinical trials | Oncology | Knowledge management | Medical diagnosis | Patients | Tumors | Cancer
UNIVERSITY-OF-CALIFORNIA | IMPACT | ONCOLOGY | MEDICINE | Medical research | Cost assessments | Diagnostic tests | Quality control | Clinical trials | Oncology | Knowledge management | Medical diagnosis | Patients | Tumors | Cancer
Journal Article
Journal of Clinical Pathology, ISSN 0021-9746, 11/2014, Volume 67, Issue 11, pp. 923 - 931
Molecular testing is becoming an important part of the diagnosis of any patient with cancer. The challenge to laboratories is to meet this need, using reliable...
ASSESSMENT PROGRAMS | RECOMMENDATIONS | EXTERNAL-QUALITY-ASSESSMENT | ACQUIRED-RESISTANCE | IMPROVEMENT | RELIABILITY | PERSONALIZED MEDICINE | PATHOLOGY | KRAS MUTATION ANALYSIS | EGFR | DIAGNOSTICS | Laboratories - standards | Predictive Value of Tests | Prognosis | Guideline Adherence - standards | Genetic Testing - standards | Practice Guidelines as Topic - standards | Humans | Specimen Handling - standards | Neoplasms - diagnosis | Benchmarking - standards | Neoplasms - genetics | Medical Records - standards | Medical Oncology - standards | Biomarkers, Tumor - genetics | Neoplasms - pathology | Pathology, Molecular - standards | Medical research | Laws, regulations and rules | Practice guidelines (Medicine) | Medicine, Experimental | Research | Diagnosis | Pathology, Molecular | Methods | Quality management | Cancer | Pathology | Laboratories | Meetings | Lung cancer | Mutation | Gene expression | Cancer therapies | Best Practice | Laboratory Tests | Molecular Pathology | 1507 | 1506 | Neoplasms | Molecular Oncology | Quality Control | Cell and Molecular Biology | CELL LUNG-CANCER | COLORECTAL-CANCER | ASSURANCE SCHEME | Cell- och molekylärbiologi
ASSESSMENT PROGRAMS | RECOMMENDATIONS | EXTERNAL-QUALITY-ASSESSMENT | ACQUIRED-RESISTANCE | IMPROVEMENT | RELIABILITY | PERSONALIZED MEDICINE | PATHOLOGY | KRAS MUTATION ANALYSIS | EGFR | DIAGNOSTICS | Laboratories - standards | Predictive Value of Tests | Prognosis | Guideline Adherence - standards | Genetic Testing - standards | Practice Guidelines as Topic - standards | Humans | Specimen Handling - standards | Neoplasms - diagnosis | Benchmarking - standards | Neoplasms - genetics | Medical Records - standards | Medical Oncology - standards | Biomarkers, Tumor - genetics | Neoplasms - pathology | Pathology, Molecular - standards | Medical research | Laws, regulations and rules | Practice guidelines (Medicine) | Medicine, Experimental | Research | Diagnosis | Pathology, Molecular | Methods | Quality management | Cancer | Pathology | Laboratories | Meetings | Lung cancer | Mutation | Gene expression | Cancer therapies | Best Practice | Laboratory Tests | Molecular Pathology | 1507 | 1506 | Neoplasms | Molecular Oncology | Quality Control | Cell and Molecular Biology | CELL LUNG-CANCER | COLORECTAL-CANCER | ASSURANCE SCHEME | Cell- och molekylärbiologi
Journal Article
Genes, Chromosomes & Cancer, ISSN 1045-2257, 2009, Volume 48, Issue 8, pp. 737 - 744
It was shown that Lynch syndrome can be caused by germline hypermethylation of the MLH1 and MSH2 promoters. Furthermore, it has been demonstrated very recently...
METHYLATION | GENE | MSH2 | ONCOLOGY | NONPOLYPOSIS COLORECTAL-CANCER | MICROSATELLITE INSTABILITY | FAMILIES | GENETICS & HEREDITY | HMLH1 | EXPRESSION | TUMORS | EPIMUTATION | Immunohistochemistry | Antigens, Neoplasm - genetics | MutL Protein Homolog 1 | Promoter Regions, Genetic | Cell Adhesion Molecules - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Humans | Male | DNA Methylation - genetics | MutS Homolog 2 Protein - genetics | Epithelial Cell Adhesion Molecule | Gene Deletion | Adaptor Proteins, Signal Transducing - genetics | Germ-Line Mutation | Female | Mutation | Nuclear Proteins - genetics | Cohort Studies | DNA-Binding Proteins
METHYLATION | GENE | MSH2 | ONCOLOGY | NONPOLYPOSIS COLORECTAL-CANCER | MICROSATELLITE INSTABILITY | FAMILIES | GENETICS & HEREDITY | HMLH1 | EXPRESSION | TUMORS | EPIMUTATION | Immunohistochemistry | Antigens, Neoplasm - genetics | MutL Protein Homolog 1 | Promoter Regions, Genetic | Cell Adhesion Molecules - genetics | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Humans | Male | DNA Methylation - genetics | MutS Homolog 2 Protein - genetics | Epithelial Cell Adhesion Molecule | Gene Deletion | Adaptor Proteins, Signal Transducing - genetics | Germ-Line Mutation | Female | Mutation | Nuclear Proteins - genetics | Cohort Studies | DNA-Binding Proteins
Journal Article
Cancer Biology & Therapy, ISSN 1538-4047, 07/2019, Volume 20, Issue 7, pp. 949 - 955
Acinar cell carcinoma (ACC) is a rare pancreatic neoplasm with dismal prognosis. Insights into the molecular basis of ACC can pave the way for the application...
Acinar cell carcinoma of the pancreas | BRCA1 | somatic mutation | BRCA2 | germline mutation | SURVIVAL | NEOPLASMS | ONCOLOGY | ADENOCARCINOMA | CANCER
Acinar cell carcinoma of the pancreas | BRCA1 | somatic mutation | BRCA2 | germline mutation | SURVIVAL | NEOPLASMS | ONCOLOGY | ADENOCARCINOMA | CANCER
Journal Article