Germline mutations to common low penetrance. Medical search. Frequent questions

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Anatomy9

Germ Cells Cell Line Chromosomes, Human, Pair 19 Micronucleus, Germline Chromosomes, Human, Pair 10 X Chromosome Chromosomes, Human, Pair 9 Stem Cells Cells, Cultured

Organisms9

Caenorhabditis elegans Drosophila melanogaster Mice, Transgenic Mice, Mutant Strains Mice, Inbred C57BL Animals, Genetically Modified Drosophila Mice, Knockout Escherichia coli

Diseases68

Genetic Predisposition to Disease Optic Atrophy, Hereditary, Leber Neoplastic Syndromes, Hereditary Hirschsprung Disease Colorectal Neoplasms, Hereditary Nonpolyposis Paraganglioma Breast Neoplasms Hamartoma Syndrome, Multiple Adenomatous Polyposis Coli Li-Fraumeni Syndrome Peutz-Jeghers Syndrome Multiple Endocrine Neoplasia Type 2a Syndrome Paraganglioma, Extra-Adrenal von Hippel-Lindau Disease Pheochromocytoma Intestinal Polyposis Ovarian Neoplasms Carcinoma, Medullary Noonan Syndrome Costello Syndrome Adrenal Gland Neoplasms Microsatellite Instability Leiomyomatosis Multiple Endocrine Neoplasia Type 1 Colorectal Neoplasms Abnormalities, Multiple Neoplasms, Multiple Primary Retinoblastoma Craniofacial Abnormalities Adenoma Melanoma Thyroid Neoplasms Growth Hormone-Secreting Pituitary Adenoma Skin Neoplasms Birt-Hogg-Dube Syndrome Ectodermal Dysplasia Hemangioblastoma Retinal Neoplasms Facies Breast Neoplasms, Male LEOPARD Syndrome Genetic Diseases, Inborn Sebaceous Gland Neoplasms Neoplasms Endometrial Neoplasms Intestinal Polyps Multiple Endocrine Neoplasia Type 2b Cell Transformation, Neoplastic Neurofibromatosis 1 Multiple Endocrine Neoplasia Skin Abnormalities Disease Models, Animal Hereditary Breast and Ovarian Cancer Syndrome Kidney Neoplasms Abdominal Neoplasms Retinitis Pigmentosa Disorders of Sex Development Neurofibromatoses Dysplastic Nevus Syndrome Disease Susceptibility Adenocarcinoma Stomach Neoplasms Carotid Body Tumor Carcinoma Pituitary Neoplasms Eye Abnormalities Pancreatic Neoplasms

Chemicals and Drugs54

NADH Dehydrogenase BRCA2 Protein MutS Homolog 2 Protein Proto-Oncogene Proteins c-ret BRCA1 Protein Succinate Dehydrogenase Nuclear Proteins Codon, Nonsense DNA, Neoplasm Adaptor Proteins, Signal Transducing DNA-Binding Proteins Neoplasm Proteins Fumarate Hydratase Proto-Oncogene Proteins Tumor Suppressor Proteins Codon Transcription Factors Drosophila Proteins DNA Primers Carrier Proteins PTEN Phosphohydrolase Genetic Markers Von Hippel-Lindau Tumor Suppressor Protein DNA Tumor Suppressor Protein p53 Protein-Serine-Threonine Kinases Caenorhabditis elegans Proteins Proto-Oncogene Proteins B-raf DNA Repair Enzymes Membrane Proteins Cyclin-Dependent Kinase Inhibitor p16 RNA, Messenger Adenomatous Polyposis Coli Protein DNA, Mitochondrial Receptor Protein-Tyrosine Kinases Proteins Mutant Proteins Bone Morphogenetic Protein Receptors, Type II DNA Glycosylases RNA Splice Sites Phosphoric Monoester Hydrolases Electron Transport Complex II Immunoglobulin Variable Region ras Proteins Cadherins Adenosine Triphosphatases Californium Intracellular Signaling Peptides and Proteins Eye Proteins Neurofibromin 1 Homeodomain Proteins DNA Transposable Elements Ethylnitrosourea Repressor Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Pedigree DNA Mutational Analysis Genetic Testing Models, Genetic Polymerase Chain Reaction Case-Control Studies Chromosome Mapping Sequence Analysis, DNA Amino Acid Substitution Heterozygote Detection Risk Factors Mutagenesis, Site-Directed Immunohistochemistry Crosses, Genetic Genetic Association Studies Mutagenesis, Insertional Models, Molecular Facies Cohort Studies Sequence Alignment Reverse Transcriptase Polymerase Chain Reaction Disease Models, Animal Cloning, Molecular Genetic Complementation Test Transfection Gene Targeting Heteroduplex Analysis Blotting, Southern Comparative Genomic Hybridization

Psychiatry and Psychology4

Genetic Determinism Family Disorders of Sex Development Nuclear Family

Phenomena and Processes89

Penetrance Germ-Line Mutation Mutation Genetic Predisposition to Disease Mutation, Missense Point Mutation Heterozygote Alleles Phenotype Genes, Dominant Genes, BRCA1 Frameshift Mutation Genotype Exons Gene Frequency Genes, BRCA2 Polymorphism, Genetic Polymorphism, Single-Stranded Conformational Base Sequence Polymorphism, Single Nucleotide Mutation Rate Genetic Variation DNA Mismatch Repair Loss of Heterozygosity Founder Effect Microsatellite Repeats Genes, APC Homozygote Codon, Nonsense Genetic Linkage Amino Acid Substitution Sequence Deletion Amino Acid Sequence Genes, Recessive Genes, p53 Microsatellite Instability Codon Base Pair Mismatch Genes, p16 Gene Deletion Exome Mutagenesis Genetic Markers Genetic Heterogeneity Mosaicism Haplotypes DNA Repair Genes, Tumor Suppressor Consanguinity Introns Genes, Neurofibromatosis 1 Signal Transduction Lod Score Oogenesis Protein Structure, Tertiary Promoter Regions, Genetic Mutagenesis, Insertional Sequence Homology, Amino Acid Haploinsufficiency Recombination, Genetic DNA Methylation Transcription, Genetic RNA Splice Sites Gene Expression Regulation, Developmental Genes, Lethal Suppression, Genetic Chromosomes, Human, Pair 19 Gene Expression Regulation, Neoplastic Genes, Modifier Binding Sites Protein Binding Immunoglobulin Variable Region Gene Silencing Chromosomes, Human, Pair 10 Heredity Transfection Gene Expression Regulation X Chromosome Chromosomes, Human, Pair 9 Gene Expression Epistasis, Genetic Genome, Human Gene Rearrangement Disease Susceptibility Genes, Retinoblastoma Genes, Immunoglobulin Genes, X-Linked Alternative Splicing DNA Transposable Elements

Disciplines and Occupations2

Genetic Counseling Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena2

Family Nuclear Family

Information Science3

Base Sequence Molecular Sequence Data Amino Acid Sequence

Named Groups2

Jews Asian Continental Ancestry Group

Health Care7

Family Health Genetic Testing Age of Onset Case-Control Studies Risk Factors Genetic Counseling Cohort Studies

Geographicals2

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Anthropology, Education, Sociology and Social Phenomena Information Science Named Groups Health Care

Penetrance Germ-Line Mutation Pedigree Mutation DNA Mutational Analysis Genetic Predisposition to Disease Mutation, Missense Point Mutation Genetic Determinism Heterozygote Alleles Optic Atrophy, Hereditary, Leber Phenotype Family Health Neoplastic Syndromes, Hereditary Genes, Dominant Hirschsprung Disease Genes, BRCA1 Colorectal Neoplasms, Hereditary Nonpolyposis Frameshift Mutation Genotype Genetic Testing NADH Dehydrogenase Paraganglioma Exons Gene Frequency BRCA2 Protein MutS Homolog 2 Protein Genes, BRCA2 Breast Neoplasms Hamartoma Syndrome, Multiple Polymorphism, Genetic Adenomatous Polyposis Coli Polymorphism, Single-Stranded Conformational Base Sequence Germ Cells Models, Genetic Age of Onset Polymorphism, Single Nucleotide Li-Fraumeni Syndrome Mutation Rate Polymerase Chain Reaction Genetic Variation Case-Control Studies Molecular Sequence Data Chromosome Mapping Proto-Oncogene Proteins c-ret DNA Mismatch Repair Peutz-Jeghers Syndrome Loss of Heterozygosity Founder Effect Microsatellite Repeats Sequence Analysis, DNA BRCA1 Protein Multiple Endocrine Neoplasia Type 2a Succinate Dehydrogenase Syndrome Genes, APC Paraganglioma, Extra-Adrenal Homozygote Nuclear Proteins von Hippel-Lindau Disease Pheochromocytoma Jews Codon, Nonsense Genetic Linkage Amino Acid Substitution DNA, Neoplasm Adaptor Proteins, Signal Transducing DNA-Binding Proteins Sequence Deletion Intestinal Polyposis Heterozygote Detection Ovarian Neoplasms Carcinoma, Medullary Neoplasm Proteins Fumarate Hydratase Amino Acid Sequence Genes, Recessive Proto-Oncogene Proteins Noonan Syndrome Costello Syndrome Adrenal Gland Neoplasms Tumor Suppressor Proteins Genes, p53 Microsatellite Instability Leiomyomatosis Codon Transcription Factors Base Pair Mismatch Multiple Endocrine Neoplasia Type 1 Family Genes, p16 Colorectal Neoplasms Gene Deletion Risk Factors Drosophila Proteins DNA Primers Carrier Proteins PTEN Phosphohydrolase

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