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Intermediate Technical In the Industry Vocabulary Test

germline mutation

An inherited genetic alteration present in reproductive cells and therefore passed from parent to offspring.

Full Definition

A germline mutation is a hereditary genetic change that occurs in sperm or egg cells and is therefore present in every cell of an individual's body from conception. In cancer genomics, germline mutations in specific genes (such as BRCA1, BRCA2, TP53, or Lynch syndrome genes) significantly increase cancer risk and influence treatment decisions. Unlike somatic mutations, germline mutations can be inherited by offspring and may indicate the need for family genetic counseling and screening. Identification of pathogenic germline mutations has important implications for both the patient and their relatives.

Usage

Usage note: Often confused with somatic mutations; emphasize inheritance pattern when editing.

In Context

  • "The patient carries a pathogenic germline mutation in the BRCA2 gene." — Genetic counseling report
  • "Germline mutations account for approximately 5-10% of all cancer cases." — Medical education material

Also known as

inherited mutation hereditary mutation

Contrasted with

somatic mutation acquired mutation

Don't confuse with

somatic mutation de novo mutation
genomic scar signature ← Back to glossary homologous recombination deficiency

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