Breast cancer is the most common type of invasive malignancy in women worldwide. Pakistan has one of the highest incidences of breast cancer in Asia. The majority of Pakistani women present with breast cancer at a young age. There is strong evidence that genetic factors play an important role in causing breast cancer. Senior research scientist, Dr. Muhammad Usman Rashid (MBBS, PhD) and his team from Shaukat Khanum Memorial Cancer Hospital & Research Centre (SKMCH&RC), Lahore, has recently published the mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations, in collaboration with an international team of leading researchers from 69 centers in 49 countries on 6 continents.
SKMCH&RC is one of the major centres contributing substantial data from Asia. Knowledge of the population-specific mutational spectrum in BRCA1/2 could inform efficient strategies for genetic testing and may justify a more broad-based ontogenetic testing in some populations.
According to the research, women who carry germline mutations (alterations) in either breast cancer susceptibility gene 1 (BRCA1) or breast cancer susceptibility gene 2 (BRCA2) are at an increased risk of breast and ovarian cancers.
The identification of mutations in BRCA1/2 has important clinical implications, as knowledge of their presence is important for risk assessment and informs medical management for patients.-PR