gene mutation

noun

plural gene mutations

: a permanent alteration (as by point mutation or frameshift mutation) in the nucleotide sequence of a gene

Researchers have identified a gene mutation that's believed to predispose people to malignant melanoma, the deadliest and most aggressive type of skin cancer.

—Health News

compare point mutation

Examples of gene mutation in a Sentence

Recent Examples on the Web

Hamilton noted that people who don't have the BRCA gene mutations (which increase the risk of ovarian and breast cancer) should still be proactive about screening. —Sarah Scott, Verywell Health, 28 Oct. 2024

Women in the general population have around a 2% lifetime risk of ovarian cancer, but in people carrying BRCA gene mutations, lifetime risk is up to 45%. —Victoria Forster, Forbes, 5 Oct. 2024

In Maria, the 49-year-old actress returns to portray opera icon Maria Callas, which marks Jolie’s first major film appearance following her decision to undergo a bilateral prophylactic mastectomy and breast reconstruction in 2013 due to her BRCA1 gene mutation and elevated risk of breast cancer. —Sandra Rose Salathe, Flow Space, 5 Sep. 2024

Some gene mutations may increase the risk of NSCLC. Mutations in the following genes may increase your risk of NSCLC: CHEK2 ATM TP53 BRCA1 EGFR APC PALB2 Smoking increases the odds of a gene mutation leading to lung cancer. —Carrie Madormo, Rn, Health, 14 Aug. 2024

Word History

First Known Use

1904, in the meaning defined above

Kids Definition

gene mutation

noun

: mutation due to a chemical change in a gene

Medical Definition

gene mutation

noun

: a permanent alteration (as a point mutation or frameshift mutation) in the nucleotide sequence of a gene

… there is a 50 percent chance each offspring will inherit the gene mutation and may develop the disease.

—Fred Cicetti

In early August the team published a study in Nature that chronicled how a single gene mutation in a laboratory strain of Escherichia coli could create a bacterium resistant to triclosan …

—Gary Stix