Essay Sample on Genetic Tests for Cancer Risk Genes

Introduction

According to 23andMe report, three variants of Hereditary Breast and Ovarian Cancer were tested in BRCA1 and BRCA2 genes. The variants tested in the BRCA1 genes are 5382insC, and 185delAG, and in BRCA2 genes is 6174deIT1. The three variants 5382insC, 185delAG, and 6174deIT are most common in the citizens of Ashkenazi Jewish descent. Hence, they are the best understood and studied variants. People who are found with either one of these three variants has a high risk of developing specific cancers8.

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Cancer Risk Associated With These Variants

There are several risks which are associated with the variants in BRCA1 and BRCA2 genes such as breast cancer and ovarian cancer. For instance, in the report of 23andme, women who have any of the three variants have a chance ranging from 45-85% to develop breast cancer at the age of 702. Also, women with BRCA1 genes variant e,g 5382insC and 185delAG has 39-46% chance to develop ovarian cancer at the age of 70 and those women with BRCA2 genes variant, 6174deIT has 10-27% chance to develop ovarian cancer by 70 years3. More so, men detect to have any of the three variants have up to an 8% risk of contracting male breast cancer and also have an increased risk of prostate cancer. The three variants have high risks to both men and women from developing pancreatic cancer and melanoma.

Usefulness of the Tests

Variants test is very crucial since it enables a person to know about genetic variants associated with an increased risk of certain health conditions such as ovarian and breast cancer. Also, the variant test is useful in providing genetic information which can be used in conversation with healthcare professionals. Variants test is useful when testing whether there is the presence of a harmful mutation of an individual of a family when the history suggests the possibility of BRCA1 or BRCA2 mutation in the family5.

Potential Concerns and Benefits Associated With the Test

An individual should be concerned with any other health condition that he or she has and discuss it with the health professional. Also, an individual should be concerned with his genetic condition information. Despite the results of an individual being positive or negative, there are some potential benefits. When the results are negative, the potential benefit includes a sense of relief regarding future risk to cancer, the chances that special frequent checkups or preventive surgeries are not necessary and acknowledging that one`s children are not at the risk of inheriting the family cancer problem. In case of positive results, it leads to relief by solving uncertainty regarding expected cancer risks in the future and allow people to make an informed decision about their future health care.

References

Cavanagh H, Rogers KM. The role of BRCA1 and BRCA2 mutations in prostate, pancreatic and stomach cancers. Hereditary Cancer in Clinical Practice 2015; 13(1):16.

Committee on Practice Bulletins-Gynecology, Committee on Genetics, Society of Gynecologic Oncology. (2017). "Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome." Obstet Gynecol. 130(3):e110-e126.

HEINE, S. T. E. V. E. N. J. (2018). DNA IS NOT DESTINY: The remarkable, completely misunderstood relationship between you and your... genes. S.l.: W W NORTON.

In Veach, P. M. C., In LeRoy, B., & In Bartels, D. M. (2010). Genetic counseling practice: Advanced concepts and skills. Hoboken, N.J: Wiley-Blackwell.

Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of the breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 2017; 317(23):2402-2416

Perry, B. L. (2015). Genetics, health, and society.

U.S. Preventive Services Task Force. (2015). "Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Recommendation Statement." Am Fam Physician. 91(2): Online.

Uhlmann, W. R., Schuette, J. L., & Yashar, B. (2010). A Guide to Genetic Counseling. New York, NY: John Wiley & Sons.