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Hereditary Breast and Ovarian Cancer syndrome, commonly referred to by its acronym HBOC, is an inherited condition that significantly raises a person’s lifetime risk of developing breast cancer, ovarian cancer, and several other cancers. It is caused by inherited mutations in specific genes, most commonly BRCA1 and BRCA2, which normally function as tumour suppressor genes. These genes are responsible for repairing damaged deoxyribonucleic acid through a process called homologous recombination.
When a person inherits a harmful mutation in one copy of BRCA1 or BRCA2, their cells are left with only one functioning copy of the gene. Over a lifetime, if the second copy also becomes damaged through normal cellular wear, the cell loses its ability to repair deoxyribonucleic acid properly, which allows cancer-causing changes to accumulate. This syndrome follows an autosomal dominant inheritance pattern, meaning a person only needs to inherit one mutated copy from either parent to be at increased risk, and each child of a carrier has a fifty percent chance of inheriting the same mutation. Beyond BRCA1 and BRCA2, other genes such as PALB2, CHEK2, ATM, RAD51C, and RAD51D have also been linked to hereditary breast and ovarian cancer risk, though BRCA1 and BRCA2 remain the most well studied and clinically significant.
In the Indian context, awareness of this syndrome remains relatively low compared to Western countries, and genetic testing uptake is limited by cost, awareness, and access to genetic counseling services, even though several Indian studies have shown BRCA mutation rates in high-risk breast cancer patients that are comparable to global figures.
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