An Overview of Genes Associated with Hereditary Breast and Ovarian Cancer in India

Indian Journal of Gynecologic Oncology(2021)

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摘要
Cancer is a dreadful disease, with genetics being a significant causative etiological factor. About 5–10% of the cancers arise through the congenital alteration of a group of genes which are predisposition genetic factor. Inherited mutation can play a role in leading or receding fashion that can deliberate varied degree of penetrance. The risk for causing hereditary cancer mainly focused on identification of BRCA1 and BRCA2, which are high-penetrance breast cancer genes linked with the highest lifetime cancer risks. The hereditary breast and ovarian cancer is also attributed to alterations in various other breast and ovarian cancer susceptibility genes. In this review, a comprehensive information of genes associated with HBOC is discussed. Extensive data are gathered using different search tools for Indian studies related to HBOC. It revealed that genetic prevalence of hereditary breast and ovarian cancer in Indian population is less explored. There are very few large-scale studies in Indian population related to HBOC. Further, there is lack of studies that analyzed various other high-penetrance gene except BRCA1/BRCA2 in Indian HBOC patients. There are various limiting factors like ethnicity, clinical history for inclusion and exclusion, inconsistency in method used for analysis, etc. The study suggested that a strategic approach is required for Indian hereditary breast and ovarian cancer patients.
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关键词
Familial cancer, Genetic penetrance, Hereditary breast and ovarian cancer, Multi-gene panel, Next-generation sequencing
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