germline mutation


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Related to germline mutation: somatic mutation

germline mutation

Hereditary mutation Molecular medicine An inherited mutation transmitted via the germline from parent to progeny

germline mutation

A mutation in the genetic content of a sperm or egg.
See also: mutation
References in periodicals archive ?
Choroid plexus carcinoma is associated with germline mutations in TP53.
These findings have been described in patients with loss of MLH1 and PMS2 on IHC testing, with detection of MLH1 methylation in neoplastic and adjacent nonneoplastic tissue, no BRAF V600E mutation, and no germline mutation of MLH1.
Second, with 1 exception in a homopolymer region, they are not known germline mutations or polymorphisms.
Carney-Stratakis syndrome refers to the association of gastric GIST and paraganglioma, resulting from germline mutations in the succinate dehydrogenase (SDH) subunit B, C, or D genes.
In contrast to Carney triad-associated GISTs, which are thought to be sporadic rather than familial, Carney-Stratakis syndrome-related GISTs occur because of germline mutations in the enzyme succinate dehydrogenase (SDH) subunits SDHB, SDHC, or SDHD.
68) False-normal staining is most frequently observed for MLH1, usually in the context of missense mutations, which inactivate the protein without affecting its expression; in such cases, isolated loss of PMS2 staining is observed, whereas the true germline mutation resides in the MLH1 gene.
6,7) Patients inherit a germline mutation in one of the mismatch repair genes.
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.
Brauckhoff et al reported that a germline mutation of RET gene had a potential role in development of both MTC & PTC.