A Deeper Understanding of the Molecular Mechanisms Differentiating High-Risk and Low-Risk BRCA2 Alterations
Karen Knudsen shared on LinkedIn:
“Hello fellow travelers to JPM25– weighing in with a great Sunday science read. For years, we’ve known that not all alterations in the BRCA2 gene carry the same weight when it comes to cancer risk. Some variants are clearly pathogenic, significantly increasing the risk of breast, ovarian, pancreatic, and prostate cancers. Others are less impactful—or even benign. The challenge has always been sorting out which is which.
Enter in a new study by Huang et al which offers a deeper understanding of the molecular mechanisms that differentiate high-risk BRCA2 alterations from those with little to no cancer link.
Why this matters:
• For patients– more tailored cancer risk assessments and personalized care plans?
• For clinicians– Better tools to interpret genetic test results, guiding treatment decisions with greater confidence?
• For researchers– A better roadmap for future studies into gene alterations and their links to cancer biology.
Enjoy the great read and Happy Sunday! ”
Functional evaluation and clinical classification of BRCA2 variants | Nature
Authors: Huaizhi Huang, Chunling Hu, Jie Na, Steven N. Hart, Rohan David Gnanaolivu, Mohamed Abozaid, Tara Rao, Yohannes A. Tecleab, CARRIERS Consortium, Tina Pesaran, Paulo Cilas Morais Lyra, Rachid Karam, Siddhartha Yadav, Katherine L. Nathanson, Susan M. Domchek, Miguel de la Hoya, Mark Robson, Miika Mehine, Chaitanya Bandlamudi, Diana Mandelker, Alvaro N. A. Monteiro, Edwin S. Iversen, Nicholas Boddicker, Wenan Chen, Marcy E. Richardson and Fergus J. Couch.
Karen Knudsen is the Executive Strategic Advisor and Immediate Past CEO of the American Cancer Society (ACS). Prior to joining ACS, Dr. Knudsen served as executive vice president of Oncology Services and enterprise director for Sidney Kimmel Cancer Center at Jefferson Health.
She also served as president for the Association of American Cancer Institutes (AACI) and on the board of directors of the American Association for Cancer Research (AACR). She serves on the board of advisors for the National Cancer Institute, on 12 external advisory boards for NCI-designated cancer centers and on Exai Bio.
She is an active member of several committees with the American Society for Clinical Oncology (ASCO), in addition to serving on other academic and for-profit advisory boards.
-
ESMO 2024 Congress
September 13-17, 2024
-
ASCO Annual Meeting
May 30 - June 4, 2024
-
Yvonne Award 2024
May 31, 2024
-
OncoThon 2024, Online
Feb. 15, 2024
-
Global Summit on War & Cancer 2023, Online
Dec. 14-16, 2023