germline mutation


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Related to germline mutation: somatic mutation

germline mutation

[¦jərm‚līn myü′tā·shən]
(genetics)
A mutation within a lineage of cells that form gametes.
References in periodicals archive ?
Malignant progression from C-cell hyperplasia to medullary thyroid carcinoma in 167 carriers of RET germline mutations.
Activating germline mutations in RET predispose to multiple endocrine neoplasia type 2 (MEN 2), which is characterized by a high risk for development of medullary carcinoma of the thyroid.
15) Genetic testing is ultimately required to identify patients with Lynch syndrome, but the absence of a detectable germline mutation does not exclude the syndrome because of technical difficulties in identifying some mutations.
Five patient samples previously tested for germline mutations in one of 4 colorectal cancer-related genes [MLH1, [4] mutL homolog 1, colon cancer, nonpolyposis type 2 (E.
Furthermore, heterozygous germline mutations in the TCF1 gene have been associated with occurrence of a rare autosomal-dominant condition (MODY3), which presents in early adulthood (usually younger than 25 years).
The definitive establishment of a diagnosis of LS requires the finding of a pathogenic germline mutation in one of the DNA MMR genes.
7,21,24,42) Recently, it was demonstrated that SDHA immunohistochemistry is also very useful to reveal the presence of SDHA germline mutations (37); paragangliomas associated with germline SDHA mutation show negative staining for SDHA as well as SDHB.
If DNA MMR IHC has not been performed, this testing should be recommended for any case that shows an MSI-H phenotype, because this information will help identify the gene that is most likely to have a germline mutation (eg, a patient whose tumor shows loss of MSH2 and MSH6 expression, but retention of MLH1 and PMS2 expression, is likely to have an MSH2 germline mutation).
Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.
This syndrome results from germline mutation of the NF1 gene, which encodes for a GTPase-activating protein, neurofibromin.
Germline mutation of RET codon 883 in two cases of de novo MEN 2B.
2) Colorectal cancer associated with a germline mutation in a MMR gene accounts for about 3% of all colorectal cancers and is by far the most common heritable cause of colon cancer.