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 ?
Prior to this study, the presence of such germline mutations in pediatric cancer patients was thought to be extremely rare and restricted to children in families with strong histories of cancer.
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.
1,2) The other need for this procedure is for patients with prophylactic mastectomy performed for cancer risk reduction with germline mutations (eg, BRCA1 and BRCA2) and cancer identified in contralateral breast.
Some chemoprevention pilot studies, such as tamoxifen for breast cancer prevention, are under way for patients with TP53 germline mutations.
Information about germline mutations can affect things beyond just the denial of health insurance.
Most Lynch syndrome CRC tumor specimens with MSH2 or MLH1 germline mutations as well as sporadic CRCs with the MLH1 gene silenced by promoter hypermethylation show a high level of MSI at mono- , di-, tri-, and tetranucleotide repeats.
More than 100 different germline mutations have been identified in the BRCA1 gene.
Women who do not have a strong family history suggesting the possibility that they carry a germline mutation or who do not have a documented germline mutation were considered by the committee to be at average risk of ovarian and breast cancer.
Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.
All but one (a BRCA1 mutation) were germline mutations.
Women who are carriers of a germline mutation in BRCA1 or BRCA2 have the greatest risk of ovarian cancer - an estimated 15%-60% risk over a lifetime.