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Breast Cancer needs a Genetic Awareness.

posted on 10/10/2018 Facebook Facebook

It is October - the pink month of Breast Cancer Awareness worldwide. Collectively, US, India and China account for almost one third of the global breast cancer burden. After continuous efforts of over 3 decades US is able to reduce breast cancer mortality and improvise survival. The drop in breast cancer mortality has been attributed to both improvements in breast cancer treatment and early detection. Awareness among population for regular clinical breast examination (CBC), mammography, breast MRI screening and genetic risk analysis have played an important role in decreasing death rate. However, not all segments of the population have benefited equally from these advances. In India, roughly for every 2 women newly diagnosed with breast cancer, one lady is dying of it (Globocan 2012). This demands an early detection and awareness for genetic analysis in breast cancer.

Genetics of Breast Cancer

Genetic predisposition is found in 10-12% of breast cancer cases that result from inherited mutations, including BRCA1 and BRCA2. It is inherited in an autosomal dominant pattern. Only about 15%-20% of familial breast cancers are attributed toBRCA1 or BRCA2 gene mutations(ACS). Other inherited conditions associated with smaller increased breast cancer risk include genes like TP53, CHEK2, PSM2, PTEN etc. Breast cancer risk among individuals with BRCA1 and BRCA2 varies and indicates the early onset of breast cancer with a fear of passing it to next generation. Research experts believe that much of the occurrence of breast cancer in results from the interaction between lifestyle factors and these genetic risk variants. Also, NCCN keeps updating guidelines for genes that needs to screen for breast cancer in patient and that helps clinicians for precise diagnosis.

Genetic Diagnosis of Breast Cancer

Molecular tests are commercially available for BRCA mutations analysis and familial cancer syndrome (Li-Fraumeni Syndrome) responsible for inherited forms of breast cancer. Advance Next Generation Sequencing technology with multiple gene panels; this combination has made mutation identification easy and rapid. Fully analysed gene report along with clinical interpretation of mutations identified, supports doctors to take therapy decision. Genetic counselling sessions at regular interval helps individual to deal with situation. Early genetic analysis of BRCA gene mutation provides ample time to individual to reduce the risk of breast and ovarian cancer with latest disease management program.

Genetic test available today are very accurate and helps to check predisposition before development of symptoms. Women diagnosed with early onset breast cancer (age <40) have almost a 4.5-fold increased risk of other cancers too. Genetic mutations in BRCA1 and BRCA2 genes, probably contribute to some of the excess risk of subsequent breast cancers, particularly among women diagnosed at a young age.


By: Ruchi Bhajeewala, Genetic Counselor, Positive Bioscience

Disclaimer: The opinions expressed in this blog are representative of the author and may not express the views of Positive Bioscience. This blog is intended for education and information for the general public. Before making any medical decisions a medical professional must be consulted. All rights reserved. Image adapted from internet.

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