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




Breast Cancer Recurrence Risk Predicted by Immune-Related Germline Variants

By LabMedica International staff writers
Posted on 25 Nov 2019
A single normal cell randomly acquires a series of mutations that allows it to proliferate and to be transformed into a cancer cell (i.e., founding clone), which initiates tumor progression and recurrence.

Pre-existing germline variants provide a profound constraint on the evolution of tumor founding clones and subclones and therefore have a contingent effect on the genetic makeup of tumor and presumably patient outcomes. More...
Family history remains one of the major risk factors that contribute to cancer.

Scientists from the University of Calgary (Calgary, AB, Canada) and their colleagues obtained whole-exome sequencing data of breast cancers from the National Cancer Institute-Genomic Data Commons (NCI GDC). They collected 755 ER+ breast cancer samples: a training set of 200 samples, a testing set of 60 samples, and two independent validation sets of 200 and 295 samples. To determine germline variants, they used variant allele frequencies (VAFs) between the tumor and healthy samples. The team used their so-called eTumorMetastasis algorithm to search for germline signatures of recurrence based on protein-coding sequences.

The scientists used the eTumorMetastasis tool, which combines variant, signaling, and network information, and initially tracked down 18 network operational gene (NOG) signatures, each containing variants involving dozens of genes. When they combined these signatures, the investigators came up with a unified germline gene set that appeared to coincide with recurrence in 60 more ER-positive breast tumors. In those validation cohorts, the authors reported, "germline variants are significantly correlated with tumor recurrence and support their hypothesis that the original germline genomic landscape of a cancer patient has a significant impact on clinical outcome."

The investigators noted that the germline variant-based prediction strategy compared favorably with prognostic insights that could be gleaned from the Oncotype DX test (Genomic Health, Redwood City, CA, USA) which considers expression levels for 21 genes in biopsied or surgically-removed tumor samples. They found that recurred patients possessed a higher rate of germline variants. In addition, the inherited germline variants from these gene signatures were predominately enriched in T cell function, antigen presentation, and cytokine interactions, likely impairing the adaptive and innate immune response thus favoring a pro-tumorigenic environment.

Edwin Wang, PhD, a professor and senior author of the study, said, “Prognostic prediction using a patient's germline genomic landscape opens up the possibility of assessing cancer patients' risk of recurrence, which allows for a better forecasting of cancer recurrence in a quick, convenient, and noninvasive manner.” The authors concluded that germline genomic information could be used for developing non-invasive genomic tests for predicting patients’ outcomes in breast cancer. The study was published on November 1, 2019 in the journal NPJ Precision Oncology.

Related Links:
University of Calgary
Genomic Health



Gold Member
Antipsychotic TDM Assays
Saladax Antipsychotic Assays
Serological Pipet Controller
PIPETBOY GENIUS
New
Gold Member
Blood Gas Analyzer
Stat Profile pHOx
New
Clostridium Difficile Toxin A+B Combo Card Test
CerTest Clostridium Difficile Toxin A+B
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: An “evolutionary” approach to treating metastatic breast cancer could allow therapy choices to be adapted as patients’ cancer changes (Photo courtesy of 123RF)

Evolutionary Clinical Trial to Identify Novel Biomarker-Driven Therapies for Metastatic Breast Cancer

Metastatic breast cancer, which occurs when cancer spreads from the breast to other parts of the body, is one of the most difficult cancers to treat. Nearly 90% of patients with metastatic cancer will... Read more

Pathology

view channel
Image: A real-time trial has shown that AI could speed cancer care (Photo courtesy of Campanella, et al., Nature Medicine)

AI Accurately Predicts Genetic Mutations from Routine Pathology Slides for Faster Cancer Care

Current cancer treatment decisions are often guided by genetic testing, which can be expensive, time-consuming, and not always available at leading hospitals. For patients with lung adenocarcinoma, a critical... Read more

Technology

view channel
Image: Researchers Dr. Lee Eun Sook and Dr. Lee Jinhyung examine the imprinting equipment used for nanodisk synthesis (Photo courtesy of KRISS)

Multifunctional Nanomaterial Simultaneously Performs Cancer Diagnosis, Treatment, and Immune Activation

Cancer treatments, including surgery, radiation therapy, and chemotherapy, have significant limitations. These treatments not only target cancerous areas but also damage healthy tissues, causing side effects... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.