A study published today in the Journal of Clinical Oncology has provided the strongest evidence to date of these links and helped researchers estimate more accurately the associated risk. Since these genes were discovered in the mid 90s, numerous studies have explored possible links between BRCA1 and BRCA2 mutations and other cancers. However, these studies had small sample sizes, resulting in imprecise estimates of cancer risk. Being able tA study published today in the Journal of Clinical Oncology has provided the strongest evidence to date of these links and helped researchers estimate more accurately the associated risk.

Since these genes were discovered in the mid 90s, numerous studies have explored possible links between BRCA1 and BRCA2 mutations and other cancers. However, these studies had small sample sizes, resulting in imprecise estimates of cancer risk. Being able to estimate the risks accurately is important for informing cancer prevention and screening strategies and providing genetic counselling to those at greatest risk. BRCA mutations are uncommon, affecting around 1 in 300-400 people in the population.o estimate the risks accurately is important forinforming cancer prevention and screening strategies and providing genetic counselling to those at greatest risk.

To further investigate these risk estimates, a team led by researchers at the University of Cambridge, funded by Cancer Research UK, analysed data from almost 3,200 families with one or more members with the BRCA1 mutation and almost 2,200 families with members carrying the BRCA2 mutation. The families had all been recruited to the Consortium of Investigators of Modi?ers of BRCA1/2. The researchers examined the associations with 22 primary cancers.

Reference
Li, S et al. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. Journal of Clinical Oncology; 25 Jan 2022; DOI: 10.1200/JCO.21.02112