New scheme to routinely test patients for inherited cancer genes
Reporter, Curator: Stephen J. Williams, Ph.D.
KJ Monohan reports in The Family History of Bowel Cancer Clinic blog, a report from the Cancer Research UK about a new program being initiated by a team consisting of The Institute of Cancer Research, The Royal Marsden, Illumina Inc and the Wellcome Trust Centre for Human Genetics to screen ovarian and breast cancer patients for genes known to increase cancer risk.
The program Mainstreaming Cancer Genetics Programme will evaluate 97 known cancer predisposition genes in breast and ovarian cancer patients (using the TruSight Cancer Panel; see below for description and link).
A link to the full story can be found here:
New scheme to routinely test patients for inherited cancer genes.
The program will complement Cancer Research UK’s own stratified medicine program, which aims to identify driver mutations (mutations in genes {usually tumor suppressor genes} which drive (responsible for) the initiation and growth of a patient’s tumor. For descriptions of driver mutations of tumors please see some articles posted on this site such as:
Rewriting the Mathematics of Tumor Growth; Teams Use Math Models to Sort Drivers from Passengers
Writer’s commentary: As I had commented on this posting, 10% of breast and ovarian cancers are considered hereditary, meaning germline mutations exist in cancer risk genes (notably BRCA1/2 for breast /ovarian) and the offspring who inherit these mutant genes from carriers have a greatly enhanced risk to develop cancer in their lifetime. Although not in the scope of this post, I will curate, in a future post, research on the identity and relative risk for various gene mutations for breast/ovarian cancer risk.
TruSight Cancer Panel
A description of Illumina’s TruSight Cancer Panel is given below:
Targeting genes previously linked to a predisposition towards cancer.
- Developed in collaboration with Professor Nazneen Rahman and team at the Institute of Cancer Research (ICR), London
- Targets 94 known genes and 284 SNPs associated with a predisposition towards cancer
TruSight Cancer includes genes associated with both common (e.g., breast, colorectal) and rare cancers. In addition, the set includes 284 SNPs found to correlate with cancer through genome-wide association studies (GWAS). Content selection was based on expert curation of the scientific literature and other high-quality resources.
The TruSight Cancer sequencing panel provides custom oligos targeting identified regions of interest. Sufficient product is supplied for four enrichment reactions. TruSight Cancer is compatible with TruSight Rapid Capture and is supported on the MiSeq, NextSeq, and HiSeq sequencing systems.
The authors note that in the US and UK, genetic testing is performed at a genetics clinic, at the request of physicians and/or the individual. With the new program the patient’s cancer doctor can manage the genetic testing, giving the oncologist access to critical genetic information which can help in treatment options and family risk assessments.
Some cancer centers already have integrated a genetic counseling department among their services. These departments also act as Family Risk Assessment Programs. A few family risk assessment programs which deal with breast/ovarian cancer are given below:
Fox Chase Cancer Center Risk Assessment Program
The Mariann and Robert MacDonald Women’s Cancer Risk Evaluation Center at Penn Medicine
Massachusetts General Hospital Breast and Ovarian Cancer Genetics and Risk Assessment Program
Breast & Ovarian Risk Evaluation Program at University of Michigan
The Breast & Ovarian Cancer Prevention Program at Seattle Cancer Care Alliance
Dana-Farber Cancer Institute’s Center for Cancer Genetics and Prevention
Cancer Risk Program are offered through the UCSF Medical Center
These are only a few cancer centers in the US which provide comprehensive counseling and testing.
Other posts on this site about Cancer Risk and Genetic Testing include:
(discussions on Angela Jolie’s experiences and issues through genetic testing and decision)
Host – Tumor Interactions during Cancer Therapy – Dr. Yuval Shaked’s Lab @Technion
(discussion by assistant professor on new paradigms in cancer treatment, detection)
(report on success and use of Foundation Medicine’s cancer genetic testing kit)
Efficacy of Ovariectomy in Presence of BRCA1 vs BRCA2 and the Risk for Ovarian Cancer
Cancer Biomarkers for Companion Diagnostics
(Scientists from around the world gathered to share some of their newest biomarker research at the “Oncology Biomarkers Conference”)
Invitae been Sued for BRCA1/2 Patent Violation by Myriad Genetics
(legal problems may hinder the availability of BRCA1/2 testing)
(discussion about issues mothers have informing their daughters about test results)
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