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• W2946508745 abstract "The genetic context in which a somatic mutation occurs can impact whether it is likely to be selected for during tumor development. Germline pathogenic variants in highly penetrant cancer susceptibility genes are associated with specific tumor subtypes as well as with somatic mutations in specific genes and pathways. A subset of cancer susceptibility alleles identified through genome-wide association studies (GWAS) shows allele-specific copy number gains and losses in tumors. GWAS have identified genetic variants associated with specific somatic events in cancer, highlighting new biological connections. Germline variants in immune system genes, such as MHC class 1 genes, enable cells with somatic mutations at specific amino acid residues to evade the immune system. Cancer is characterized by diverse genetic alterations in both germline and somatic genomes that disrupt normal biology and provide a selective advantage to cells during tumorigenesis. Germline and somatic genomes have been extensively studied independently, leading to numerous biological insights. Analyses integrating data from both genomes have identified genetic variants impacting somatic events in tumors, including hotspot driver mutations. Interactions among specific germline variants and somatic events influence cancer subtypes, treatment response, and clinical outcomes. Investigation of these complex interactions is increasing our understanding of aberrant pathways in tumors that may uncover novel therapeutic targets. Here, we review the literature describing the role of germline genetic variants in promoting the selection and generation of specific mutations during tumorigenesis. Cancer is characterized by diverse genetic alterations in both germline and somatic genomes that disrupt normal biology and provide a selective advantage to cells during tumorigenesis. Germline and somatic genomes have been extensively studied independently, leading to numerous biological insights. Analyses integrating data from both genomes have identified genetic variants impacting somatic events in tumors, including hotspot driver mutations. Interactions among specific germline variants and somatic events influence cancer subtypes, treatment response, and clinical outcomes. Investigation of these complex interactions is increasing our understanding of aberrant pathways in tumors that may uncover novel therapeutic targets. Here, we review the literature describing the role of germline genetic variants in promoting the selection and generation of specific mutations during tumorigenesis. alternative forms of DNA located at the same genetic locus on a chromosome, also known as a variant. Diploid organisms have two alleles at each genetic locus, with one allele being inherited from each parent. somatic DNA copy number alterations in which one allele shows preferential copy number changes (loss or gain) compared with the other allele. variations in DNA sequence transmitted from parent to offspring via the sperm or egg. These variants are in all cells of the offspring and can be transmitted to future generations. association studies for a disease (or phenotype) or disease in which genetic variants across the entire genome are tested for association with disease in individuals with the disease (cases) and individuals without the disease (controls). when a germline variant is associated with an increased likelihood that a specific somatic mutation will be present in a tumor. the tendency for two or more genes located close together on the same chromosome to be inherited together. ‘Linkage study’ refers to a family-based method used to map a trait to a genomic location by demonstrating co-segregation of the disease with genetic markers of known chromosomal location. a genetic event whereby one of two different alleles at a locus is lost. When LOH occurs in tumors, the genome is homozygous at that locus but is heterozygous in the corresponding germline DNA. the condition of genetic hypermutability resulting from defective DNA mismatch repair. a gene or a mutant variant of a gene that is associated with tumorigenesis. a genetic alteration that is associated with or increases an individual’s predisposition to a particular disease, also known as a mutation. the proportion of individuals in a population carrying a phenotype or disease-associated genetic variant who manifest the trait. When individuals carry a particular phenotype-associated allele and do not exhibit the phenotype, the gene is said to have reduced or lower penetrance. also known as a nonrisk or protective allele. Depending on the context, these alleles are associated with no change in disease risk or are associated with a decreased risk. also known as a single nucleotide polymorphism (SNP). A SNV is a sequence variation in a single nucleotide occurring at a specific genetic location. The term ‘SNP’ traditionally refers to variation present at a frequency >1% in a population, whereas a SNV can occur at any frequency in a population. a change in DNA that occurs in nongerm cells after conception. also known as a risk-allele; alleles associated with increased likelihood of developing the disease. genes that suppress tumor development by regulating cell growth and division, stimulating cell death and/or DNA repair. a hypothesis in which two mutations, one in each copy of a tumor suppressor gene, are required for a cell to give rise to a tumor." @default.
• W2946508745 created "2019-05-29" @default.
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• W2946508745 date "2019-07-01" @default.
• W2946508745 modified "2023-10-16" @default.
• W2946508745 title "Germline Variants Impact Somatic Events during Tumorigenesis" @default.
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• W2946508745 doi "https://doi.org/10.1016/j.tig.2019.04.005" @default.
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