We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
PURITAN MEDICAL

Download Mobile App




Pathogenic Germline Variants Found in Breast Cancer Patients

By LabMedica International staff writers
Posted on 18 Sep 2019
There is still considerable debate on the value of multigene panel testing for inherited cancer in patients with breast cancer, based on both the prevalence of pathogenic/likely pathogenic (P/LP) variants and any therapeutic implications from genetic test results.

Recent studies demonstrate that the prevalence of P/LP variants is similar in patients with breast cancer whether or not they meet criteria for testing by the National Comprehensive Cancer Network (NCCN) guidelines. More...
However, most participants in these studies were patients with early stage breast cancer and many low-risk variants were identified, raising the question of clinical actionability.

Scientists from Johns Hopkins University School of Medicine, Baltimore, MD, USA) and the Vanderbilt Ingram Cancer Center, Nashville, TN, USA) have demonstrated that there is a potential benefit to doing widespread hereditary cancer risk testing in individuals with metastatic breast cancer. Along with information for family members, the team reasoned that such testing might be beneficial for guiding treatment decisions in some metastatic breast cancer patients, particularly individuals carrying risky mutations in BRCA1 or BRCA2 who might be eligible to receive PARP inhibitor treatment.

The oncologists used a multigene germline panel test from Color Genomics (Burlingame, CA, USA) to prospectively search for pathogenic or likely pathogenic variants in 30 genes in 100 individuals with metastatic breast cancer, regardless of whether they met the NCCN’s testing criteria at the time. The team reported pathogenic or likely pathogenic variants in 14 of the 100 individuals, including six patients who did not meet NCCN testing guidelines. Conversely, two of the six metastatic breast cancer patients who carried risky BRCA1/2 mutations had not been tested in the past even though they did meet testing criteria from NCCN.

In addition to the pathogenic and likely pathogenic changes found in cancer-related genes such as ATM, BRIP1, or CHEK2, the scientists found another 21 metastatic breast cancer patients who had variants of uncertain significance in one or more of the genes on the panel. Ben Ho Park, MD, PhD, a Professor of Medicine and senior author of the study, said, “Our results provide evidence to support genetic testing for inherited cancer predisposition among all patients with metastatic breast cancer, because this group represents a population with a high prevalence of pathogenic or likely pathogenic variants that could have therapeutic implications.” The study was published on August 29, 2019, in the journal JAMA Oncology.

Related Links:
Johns Hopkins University School of Medicine
Vanderbilt Ingram Cancer Center
Color Genomics


Gold Member
Flocked Fiber Swabs
Puritan® Patented HydraFlock®
Serological Pipet Controller
PIPETBOY GENIUS
New
Hand-Held Immunofluorescence Analyzer
WS-Si1500
New
Chlamydia Trachomatis Test
Aptima Chlamydia Trachomatis Assay
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








DIASOURCE (A Biovendor Company)

Channels

Hematology

view channel
Image: CitoCBC is the world first cartridge-based CBC to be granted CLIA Waived status by FDA (Photo courtesy of CytoChip)

Disposable Cartridge-Based Test Delivers Rapid and Accurate CBC Results

Complete Blood Count (CBC) is one of the most commonly ordered lab tests, crucial for diagnosing diseases, monitoring therapies, and conducting routine health screenings. However, more than 90% of physician... Read more

Immunology

view channel
Image: A simple blood test could replace surgical biopsies for early detecion of heart transplant rejection (Photo courtesy of Shutterstock)

Blood Test Detects Organ Rejection in Heart Transplant Patients

Following a heart transplant, patients are required to undergo surgical biopsies so that physicians can assess the possibility of organ rejection. Rejection happens when the recipient’s immune system identifies... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.