Analysis Of Full-length Transcripts For Variant Classification In Breast Cancer
Problem
Genetic screening for breast cancer in New Zealand needs better tests to accurately identify high-risk genes and manage families at risk.
Project
This study focuses on less-known high-risk breast cancer genes using new nanopore sequencing technology. This method will help identify mutations more reliably in genes like CDH1, PALB2 and others.
Outcome
With more accurate results, doctors can offer better surveillance, treatments, and surgeries to reduce the risk of developing breast cancer.
Future
The research findings will help create global guidelines and improve testing for all, including better understanding of cancer risks for New Zealand populations.
Project Update
This project, done with experts locally and globally, improved technology and guidelines for identifying changes to important breast cancer genes like BRCA1/2 and others. These new guidelines are now used worldwide and approved by the US FDA. With a $1.19M grant, Logan and his team will study how these findings help in clinics to support healthcare that is improved and equitable across New Zealand populations.
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