Siddhartha Yadav, ssociate Professor of Oncology and Consultant Medical Oncologist at the Mayo Clinic, shared on LinkedIn:
“We are used to thinking about pathogenic variants in BRCA1 and BRCA2 as carrying a high risk of breast and ovarian cancer. But not all BRCA1/2 variants may carry the same risk.
What if the type of variant and where it is located within the gene could help us better estimate an individual’s risk of developing a specific cancer? In this review, we discuss the growing evidence that cancer risk associated with BRCA1 and BRCA2 can vary based on the type and location of the variant, and what that could mean for more precise risk estimation.
Precision in risk estimation in BRCA1/2 carriers can help us be better about screening, prevention, and other risk-management strategies. We are slowly but surely moving from gene-level risk toward variant-specific risk and, hopefully, towards a more individualized risk management.”
Title: Clinical Implications of the Type and Genomic Location of Pathogenic BRCA1 and BRCA2 Variants in Hereditary Breast and Ovarian Cancer.
Authors: Emma Zattarin, Claudia Piombino, Elena Tenedini, Flavia Siciliano, Isabella Galasso, Elena Barbieri, Mina Grippa, Silvia Zaniboni, Ornella Ponzoni, Pablo Mandó, Matteo Lambertini, Eva Blondeaux, Enrico Tagliafico, Federico Piacentini, Siddhartha Yadav, Giovanni Grandi, Massimo Dominici, Laura Cortesi, Angela Toss.
To which, Matteo Lambertini, Associate Professor at the University of Genova, added:
“Great work led by super Angela Toss.”
You can also read: Erika Hamilton: SCRI Oncology Partners Supports Breast Cancer Awareness in Nashville.
