Mutations germline

Weber, T.K., et al., "Novel hMLHl and hMSH2 Germline Mutations in African Americans with Colorectal Cancer," JAMA, 281, 2316-2320 (1999). 

Gene mutations occur in two ways they can be inherited from a parent or acquired during a person s lifetime. Mutations that are passed from parent to child are called hereditary mutations or germline mutations (because they are present in the egg and sperm cells, which are also called germ cells). This type of mutation is present throughout a person s life in virtually every cell in the body. 

Germline mutation A gene change in the body s reproductive cells (egg or sperm) that becomes incorporated into the DNA of every cell in the body of offspring germline mutations are passed on from parents to offspring. Also called hereditary mutation. [NIH]... 

Gaythee, S. a., et al., Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet, 1997, 15(1), 103-5. 

Although the study of inherited cancer syndromes has led to the identification of a number of tumor suppressor genes and oncogenes, the inherited cancer syndromes are thought to account for only about 1% of all cancers. However, somatic (as opposed to germline) mutations in many of these tumor suppressors and proto-oncogenes play a key role in the causation of noninher-... 

Often, genes involved in the less common, strongly inherited subsets of common diseases are also involved in the common noninherited cases (but in different ways, such as a somatic mutation instead of germline mutation). 

Hyperthyroidism, for example, can result from activating germline mutations that are located in the TSHR TM domains. By contrast, thyroid adenomas and multin-odal goiter (25-31) result from a variety of somatic mutations in other regions of the TSHR. For example, a rare constitutively active TSHR mutation in the first TM domain results from a Gly substitution at the conserved Ser position (28). 

Duprez, L., Parma, J., Vansande, J., et al. (1994) Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal-dominant hyperthyroidism. Nat. Genet. 7, 396 01. 

Keywords Cancer genotyping germline mutation polymorphism tumor. 

Brunelli, S., Faiella, A., Gapra, V., Nigro, V., Simeone, A., Gama, A., and Boncinelli, E. (1996) Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 12 94-96. 

Yamaguehi K, Aral Y, Kanda Y et al. Germline mutation of dihydropyrimidine dehydrogenese gene among a Japanese population in relation to toxieity to 5-Fluorouracil. Jpn J Cancer Res 2001 92 337-342. 

P5. Pelletier, J., Bruening, W., Kashtan, C. E., Mauer, S. M., Manivel, J. C., Striegel, J. E., Houghton, D. C., Junien, C., Habib, R., and Fouser, L., Germline mutations in the Wilms tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67, 437-447 (1991). 

Only about 1-2 % of all cancers are hereditary. More than 20 different hereditary cancers have been characterized and attributed to specific germline mutations in more than 25 genes.3... 

ER. Neutrophils from patients with heterozygous germline mutations in the von Hippel Lindau protein (pVHL) display delayed apoptosis and enhanced bacterial phagocytosis. Blood 2006 108 3176-3178. 

Hereditary and nonhereditary forms of colon cancer exist. Nonhereditary cancers involve mutations that are said to arise spontaneously, and these mutations are called somatic mutations. Hereditary cancers involve mutations that are called germline mutations. Hereditary cancers are much less common than spontaneous... 

Germline mutation in BRCA1 or Hepatoblastoma Rhabdomyosarcoma Adrenal carcinoma Breast or ovarian cancer... 

Microsatellite instability is found to be a common feature of nearly all tumors from patients with hereditary nonpolyposis colorectal cancer (HNPCC) (4,16). The majority of HNPCC cases arise through germline mutations in two genes, hMSH2 and hMLHl on chromosomes 2 and 3, which encode the human homologs of bacterial mismatch repair genes, MutS and MutL (17,18). Cells which display microsatellite instability are termed as having an RER+ phenotype, which stands for replication error (5). Such RER+ tumor cells have been shown to have defects in mismatch repair and possess a mutator phenotype (19). 

---