Journal of Cancer Science and Research
Open Access

Risk of Epithelial Ovarian Cancer in Women Carrying BRCA1 and BRCA2

Etocah Mizan^{* *}Correspondence: Etocah Mizan, Department of Humanities, Pegaso University, Naples, Italy, Email:

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About the Study

Epithelial ovarian cancer is a complex disease, affecting thousands of women worldwide. Among the various risk factors associated with this type of cancer, mutations in the BRCA1 and BRCA2 genes have been identified as major contributors to elevated susceptibility.  BRCA1 and BRCA2 are tumor suppressor genes involved in repairing damaged DNA, therefore maintaining the character of a cell’s genetic material. Mutations in these genes can considerably increase the risk of developing certain cancers, including breast and ovarian cancer. Women carrying mutations in either BRCA1 or BRCA2 have a higher lifetime risk of developing epithelial ovarian cancer compared to the general population. The presence of a BRCA1 or BRCA2 mutation greatly raises the risk of developing epithelial ovarian cancer. Studies have shown that women with these mutations have a lifetime risk of 40-60% for developing ovarian cancer, compared to the average population risk of approximately 1-2%. This increased risk concentration, the key role these genetic mutations play in the start of this specific type of cancer.

Specificity of BRCA1 and BRCA2 mutations in ovarian cancer

Both BRCA1 and BRCA2 mutations are associated with an increased risk of ovarian cancer, but they may differ in certain aspects. BRCA1 mutations, for instance, are more strongly linked to a higher risk of developing serous ovarian cancer, one of the most common subtypes. Also, BRCA2 mutations might be associated with a slightly lower risk of ovarian cancer compared to BRCA1 mutations, but they are still significantly linked to increased susceptibility.

BRCA1: This gene is located on chromosome 17 and is involved in repairing damaged DNA. Mutations in BRCA1 are linked to an increased risk of breast and ovarian cancer.

BRCA2: This gene, located on chromosome 13, is also involved in DNA repair. Mutations in BRCA2 are associated with an elevated risk of breast, ovarian, and other cancers.

Ovarian cancer risk

BRCA1: Women with BRCA1 mutations have a higher risk of developing ovarian cancer compared to the general population. The risk factor differ, but studies suggest that BRCA1 mutations are more strongly associated with serious ovarian cancer.

BRCA2: Similarly, BRCA2 mutations are associated with an increased risk of ovarian cancer, although the risk may be potentially lower than that associated with BRCA1 mutations.

Histological subtypes

Ovarian cancer is a heterogeneous disease with different histological subtypes, including serous, endometrioid, clear cell, and mucinous. Mutations in BRCA1 are more commonly associated with high-grade serous ovarian cancer. But mutations in BRCA2 are also linked to an increased risk of serous ovarian cancer, which can be associated with other histological subtypes as well.

Screening and prevention

Women with BRCA1 or BRCA2 mutations may consider more intensive screening for ovarian cancer, and certain people might choose risk-reducing strategies, such as prophylactic surgery (removal of the ovaries and fallopian tubes) to reduce their cancer risk. While BRCA1 and BRCA2 mutations are associated with an increased risk of ovarian cancer, not all individuals with these mutations will develop the disease. Also, other genetic and environmental factors also contribute to ovarian cancer risk. Genetic counseling and testing can help individuals understand their specific risk and make informed decisions about screening and prevention.

Clinical consequences and risk management

Women with BRCA1 or BRCA2 mutations often face an earlier appearance of ovarian cancer compared to those without these mutations. The age factor can differ, with some individuals developing ovarian cancer in their 30s or 40s. Also, the effect of these mutations i.e., likelihood of developing cancer if one carries the mutation is high, highlighting the important need for proactive screening and risk-reducing strategies among mutation carriers. Understanding the increased risk of epithelial ovarian cancer allows for targeted and proactive measures to manage this risk. This includes improved observation, such as regular screenings involving transvaginal ultrasound and CA-125 blood tests, as well as discussions about risk-reducing surgery, including prophylactic removal of the ovaries and fallopian tubes. For women with BRCA1 or BRCA2 mutations, risk-reducing approaches play a vital role in managing the elevated risk of ovarian cancer. Prophylactic surgeries, such as bilateral salpingo-oophorectomy, significantly reduce the risk of ovarian cancer. Also, ongoing research into targeted therapies and medications for mutation carriers is a promising area, offering potential alternatives for early intervention and risk management. The knowledge of carrying a BRCA1 or BRCA2 mutation and associated with increased risk of ovarian cancer can have very important psychological effects on individuals and their families. Genetic counseling, support groups, and access to mental health services are important in helping individuals direct the emotional and psychological aspects of understanding and managing their increased risk of cancer.

Conclusion

In conclusion, women carrying mutations in the BRCA1 or BRCA2 genes have a risk of developing epithelial ovarian cancer. The association is particularly marked for high-grade serous ovarian cancer, with BRCA1 mutations showing a stronger correlation. These genetic mutations not only increase the likelihood of ovarian cancer but also impact the age of arrival, often showing at an earlier age than irregular cases. As a result, individuals with BRCA1 or BRCA2 mutations may benefit from increased ovarian cancer screening and may consider risk-reducing strategies, such as prophylactic surgery. However, it is vital to identify that while these mutations greatly increase ovarian cancer risk, not all carriers will develop the disease, focusing on the complex interaction of genetic and environmental factors in cancer development. Genetic counseling and testing play a vital role in allowing individuals to make informed decisions about risk management and prevention strategies modified to their specific genetic profile.