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 ?
Succinate dehydrogenase B-deficient renal cell carcinoma: a case report with novel germline mutation. Pathol Int.
Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.
Thus, nearly one-third of all patients with PHEO have germline mutations [5, 21], and this number is significantly higher at younger ages [3, 22].
Guarinos et al., "Risk of cancer in cases of suspected lynch syndrome without germline mutation," Gastroenterology, quiz e913-e924, pp.
The only differentiating features between these two syndromes are the lower incidence for CRC and other LS-associated cancers and the absence of MMR genes germline mutation in Lynch-like syndrome.
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.
Papillary thyroid carcinoma in patients with RET proto-oncogene germline mutation. Thyroid 2002; 12(7):557-61.
We analyzed BRCA1 and BRCA2 genes; a total of eight BRCA deleterious germline mutations were found in eight unrelated patients with frequency of 20% (8/40), four within BRCA1 and four within BRCA2; these mutations range from deletion or substitution of a single nucleotide to whole deletions of one or more exon of either BRCA1 or BRCA2.
In conjunction, the company said the study is seeking to obtain data that will help in the development and validation of a molecular marker panel intended to help guide surgeons and women, particularly the subset of participants who carry the BRCA germline mutation, in the decision to consider prophylactic bilateral radical mastectomy.
The main molecular mechanism underlying LFS is germline mutations in TP53 (5), which predominantly occur in the central DNA-binding domain (6).
Germline mutations of the APC gene in patients with familial adenomatous polyposis associated thyroid carcinoma: results from a European cooperative study.
in HNPCC the proportion of MSH-2 mutations almost equals the proportion of MLH-1 mutations, whereas MTS is most frequently caused by germline mutations in MSH-2.