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Which inherited gene mutations can increase the risk of ovarian cancer?

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Detailed cross-sectional illustration of a human ovary showing the stages of follicle development, ovulation, and corpus luteum formation, with labeled structures including primordial, primary, secondary, and mature follicles, a ruptured follicle releasing an ovum, and corpus luteum and albicans. An inset at the bottom shows the ovary's location in the female reproductive system. — ovary The steps of ovulation, beginning with a dormant primordial follicle that grows and matures and is eventually released from the ovary into the fallopian tube.

Inherited gene mutations that increase the risk of ovarian cancer primarily involve the BRCA1 and BRCA2 genes. These genes normally function as tumor suppressor genes that play a critical role in DNA repair and maintaining the integrity of a cell's genetic material.123

When these genes are mutated, the body's ability to repair DNA damage is hindered, which significantly elevates the risk of developing ovarian tumors. Specifically, women with BRCA1 mutations face an estimated 39 to 58 percent lifetime risk of ovarian cancer, while those with BRCA2 mutations have an 11 to 29 percent risk, compared to approximately 1.1 percent in the general population.32

Additionally, individuals with hereditary nonpolyposis colorectal cancer (HNPCC) carry inherited genetic mutations that also place them at an increased risk for ovarian cancer. While these inherited mutations predispose individuals to the disease, it is important to note that cancer development is a multifactorial process often involving the interplay between inherited factors and subsequent somatic mutations.21