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Related to Germline mutation: somatic mutation
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  • noun

Synonyms for mutation

Synonyms for mutation

the process or result of making or becoming different

the process or result of changing from one appearance, state, or phase to another

Synonyms for mutation

(biology) an organism that has characteristics resulting from chromosomal alteration

a change or alteration in form or qualities

References in periodicals archive ?
Ultimately, researchers anticipate that systematic monitoring of patients and family members who have germline mutations in cancer predisposition genes will allow the detection of cancers at their earliest and most curable stage, thereby improving the outcomes for these children and family members.
BRCA germline mutations in women with uterine serous carcinoma--still a debate.
6) Nipple-sparing mastectomy is an increasingly used procedure for patients undergoing risk-reduction (prophylactic) mastectomy with cancer in contralateral breast or those with high cancer risk due to some germline mutations in BRCA1/2 genes.
The presence or absence of TP53 germline mutations provides more information for the providers but is not the basis for diagnosis.
The familial harms result from the inheritable nature of germline mutations, mixed in with the fact that there are all these complex family dynamics.
The Task Force report also seeks to exclude "tests for somatic cell mutations, unless such tests are capable of detecting germline mutations.
We are 99 percent sure these are real germline mutations and they have been passed from parent to child," Dubrova says.
While many of these familial clusters may be linked to shared behaviors or environmental exposures among family members, some are associated with germline mutations in specific genes.
If it appears that the breast and ovarian cancer present in a family is inherited, molecular diagnosis may be used to identify the germline mutation in both affected and potentially presymptomatic individuals.
Occult carcinoma in prophylactic oophorectomy specimens: prevalence and association with BRCA germline mutation status.
Although the majority of patients with pheochromocytomas have no family or medical history suggesting an inherited condition, up to one-third of patients have an identifiable germline mutation in one of these genes, and a pheochromocytoma maybe the first or only manifestation of the condition.
Women who are carriers of a germline mutation in BRCAl or BRCA2 have the greatest risk of ovarian cancer--an estimated 15%-60% risk over a lifetime.
20) Most families with HNPCC carry the germline mutation of one of four genes--hMSH2, hMLH1, hPMS1, hPMS2.
At least 20 families with germline mutation in either KIT or PDGFRA have been described.
Nine of 14 germline mutation carriers had no first-degree family history of breast or ovarian cancer.