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

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

The majority of Angelman syndrome cases are the result of a spontaneous gene mutation, which means it is not passed down from the biological parents to a child. —Emily Deletter, USA TODAY, 8 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