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Implications of BRCA1, BRCA2 Gene in Overall Development and Prognosis of Breast Cancer

Breast Cancer: From Bench to Personalized Medicine, Page: 87-112
2022
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Book Chapter Description

Thousands of genes are there but BRCA1 and 2 are the most talked about and cited with reference to many common malignancies and in particular breast cancer. These genes have a pivotal role to repair DNA but their mutations either heritable or somatic enhance sensitivity to carcinogenic agents that damage DNA. Being highly penetrant, BRCA1/2 furnishes access to various DNA damage pathways and aberrant cell cycle surge. Subsequent to the mutations in both genes, the impacted pathways augment the sensitivity to ionizing radiation coupled with condensed competence of the individual to restore the insult caused to DNA that consequently raise the vulnerability to breast carcinogenesis. Especially acquaintance with the prototype of inheritance of disease with reference to BRCA gene mutation manifests its distinctive feature to identify families that harbor the mutation that facilitate their therapeutic preventative measures to guard against the disease. Classification and revelation of BRCA mutation-affected patients manipulate the options for treatment and impact the outcome of breast cancer survival, and in addition could be a vital tool to identify their kins that harbor the inherited mutated gene. Therefore, these mutations highly implicated in breast cancer are actionable in the era of personalized medicine to treat the patients that prolong their survival outcome and free the patients from disease. Thus, it is imperative to develop and opt for the screening methods best available to identify the BRCA 1/2 mutations.

Bibliographic Details

Sheikh Mansoor; Usma Manzoor; Aabid Mustafa Koul; Ina Amin; Iqra Anwar; Qurat ul Aein; Arshad A. Pandith; Shahid M. Baba

Springer Science and Business Media LLC

Medicine; Biochemistry, Genetics and Molecular Biology

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