Prevalence in India and Genetic Causes

Hereditary Breast and Ovarian Cancer Syndrome (or HBOC) is a genetic condition in which a patient is more likely to develop breast, ovarian and other cancers. Breast and ovarian cancers are some of the most prevalent cancers in the world; within India nearly 30% of all new cancers detected in women are breast cancers, and it is estimated that 1 in 28 Indian women will develop HBOC in their lifetime[1].

As suggested in the name, HBOC is caused by inherited genetic mutations that can be passed down from either or both parents. The most common genetic mutations that cause HBOC are in the BRCA1 and BRCA2 genes. These are genes that typically produce proteins to aid in repairing DNA damage. However, when they are mutated, those proteins either don’t form or can be harmful (i.e. pathogenic). In a study carried out at Strand, we found 72.5% of cases were due to BRCA1 and BRCA2 mutations[2].  Patients with  mutations in the BRCA1 gene are at 39-46%% risk of developing ovarian cancer while patients with mutations in the BRCA2 gene are at 10-27% risk of developing ovarian cancer [3].  Thus testing for BRCA1 and BRCA2 mutations becomes critical in staying ahead of HBOC.

The average age of onset when it comes to HBOC is 52 years [4], however typically it can be detected as early as 35. One of the main indicators of risk of HBOC is a family history of breast and/or ovarian cancers. In families where 4 or more individuals under the age of 60 have been diagnosed with breast cancer, the chance of HBOC is 80%, and thus it is imperative to be screened if a family member has been diagnosed [1].

Thankfully, early detection and intervention can reduce the risk of developing a cancer, and better management. Look out for our next few articles where we discuss the advantages of early detection and what typical treatment may look like for patients who develop breast and/or ovarian cancers.

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