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Ignorance is no more a bliss!

posted on 1/31/2019 Facebook Facebook

Are you one of those people who think,

I''d rather not have information about my lifetime disease/genetic risk pattern than being apprehensive”.

It is no more apposite in reality. Genetic screening and molecular disease risk estimation are becoming increasingly popular to render genetic basis of any disease. Healthy lifestyle and diet pattern are no more the only markers for assessing the disease pattern in one''s lifetime however, these contribute significantly to reduce the risk of majority of the diseases. Presence of a genetic marker (aka biomarker) for certain diseases such as cancer greatly helps one for appropriate management and/or early diagnosis to reduce the occurrence or aggressiveness of the disease. BRCA1/2 is one such marker which helps predict the risk of breast cancer in an individual over his/her lifetime. However, it is only a predictive not a confirmatory biomarker for breast cancer. Recent research have expanded the predictive utility of BRCA1/2 gene in various other cancers such as ovarian cancer, pancreatic cancer, male breast cancer, prostate cancer, etc.

Why is BRCA gene important?

BRCA1/2 genes are vital in various cellular processes especially during DNA breaks. These genes function with other proteins in the cell to mend these breaks and repair them to retain original cellular functions. Thus, these genes are termed “Tumor suppressors” which perform DNA repair functions.

A case presentation for clearer picture:

A 72 year old female who was diagnosed with breast cancer at 71 years of age with no known family history of cancer was recommended for comprehensive genomic screening. A pathogenic BRCA1 mutation was identified on screening and it was found to be associated with conditions including Breast-ovarian cancer, familial 1, Hereditary breast and ovarian cancer syndrome and Hereditary cancer predisposing syndrome. She is a mother with 2 daughters who were in their early and mid 40s. As per the recommendations of American Cancer Society, women above 40 years of age (with/without family history of cancer) should opt for regular screening to monitor their lifetime risk for breast cancer with annual clinical examinations and mammogram (source: https://www.cancer.org/cancer/breast-cancer/screening-tests-and-early-detection/american-cancer-society-recommendations-for-the-early-detection-of-breast-cancer.html). Genetic screening tests have also been recommended for those individuals with a family history of cancer/breast cancer (first degree) which becomes more essential with presence of BRCA1/2 mutation. In our case presentation, due to the family history of breast cancer with the presence of BRCA mutation (in the mother), the daughters were screened to estimate the risk of genetic inheritance of BRCA1 mutation as identified in the mother though they showed no known personal evidence of cancer. On analysis, we detected the presence of the same BRCA1 mutation in both the daughters which renders three members in the family, carriers of BRCA1. As per international guidelines, it has been estimated that 55% to 65% of women with BRCA1 mutation will develop breast cancer before the age of 70 (source: https://www.nationalbreastcancer.org/what-is-brcahttps://www.mskcc.org/cancer-care/types/breast/mammograms-breast-exams/screening-guidelines-breast). With this alarming statistical evidence, genetic screening was best opted appropriately for the daughters when mother was already carrying breast cancer. This increased the benefits of implementing early management and diagnostic protocols for reducing the overall lifetime risk of developing breast cancer in the daughters as they are currently not affected. Further, genetic counseling was also recommended for other family members since the mutation is inheritable.

Genetic risk prediction is a healthy caution. Screen early to manage your risk, not the disease”.

By Aarthi Ramesh, Scientific Officer, Positive Bioscience

Image sources:

1. Venkitaraman AR. Functions of BRCA1 and BRCA2 in the biological response to DNA damage. Journal of cell science. 2001 Oct 15;114(20):3591-8.

2. Zhang L, Shin VY, Chai X, Zhang A, Chan TL, Ma ES, Rebbeck TR, Chen J, Kwong A. Breast and ovarian cancer penetrance of BRCA1/2 mutations among Hong Kong women. Oncotarget. 2018 May 18;9(38):25025.

3. 2009 report by Indian Institute of Science, Bengaluru.

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