Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
LGC Clinical Diagnostics

Download Mobile App




Breast and Ovarian Cancers Associated with Predisposition Genes

By LabMedica International staff writers
Posted on 06 Sep 2018
Since the discovery of BRCA1 and BRCA2, multiple high- and moderate-penetrance genes have been reported as risk factors for hereditary breast cancer, ovarian cancer, or both.

However, it is unclear whether these findings represent the complete genetic landscape of these cancers. Systematic investigation of the genetic contributions to breast and ovarian cancers is needed to confirm these findings and explore potentially new associations.

A team of scientists led by those at Ambry Genetics (Aliso Viejo, CA, USA) analyzed a sample set from 11,416 patients with clinical features of breast cancer, ovarian cancer, or both who were referred for genetic testing from 1,200 hospitals and clinics across the USA between 2014 and 2015. They also analyzed 3,988 controls that were referred for genetic testing for non-cancerous conditions such as cystic fibrosis or rare inherited cardiovascular conditions. The scientists performed whole-exome sequencing and examined the gene-phenotype associations, and conducted case-control analyses as a set of reference controls using the Genome Aggregation Database (gnomAD).

The team identified four genes that confer significantly increased breast cancer risk: ATM, CHEK2, MSH6, and PALB2. The association with the Lynch syndrome susceptibility gene MSH6 was newly identified. Those findings were supported by comparisons with the gnomAD database as a reference population, in which all four genes were present and significantly associated with similar or higher estimated risks. PALB2 was associated with high breast cancer risk, whereas ATM and CHEK2 conferred two- to three-fold risks.

In the case of ovarian cancer, the investigators found that four genes were significantly associated with increased disease risk: RAD51C, TP53, MSH6, and ATM. The associations between ovarian cancer risk and RAD51C and TP53, which had previously been studied, were confirmed. RAD51C was associated with high risk, and the scientists observed moderately increased ovarian cancer risk with MSH6 and ATM.

The authors concluded that owing to the lack of significantly powered studies, the number and selection of risk genes for hereditary cancer testing have not been standardized and robust evidence for association with breast cancer or ovarian cancer risk is only available for a modest set of characterized genes typically included in most panels. This is particularly the case for moderate-penetrance genes, for which there exists either conflicting evidence or insufficient data for reliable estimation. Their study showed that this approach could provide useful information for cancer genetic testing and could broaden the range of cancer risk genetic associations. The study was published on August 16, 2018, in the journal JAMA Oncology.

Related Links:
Ambry Genetics


Gold Member
Chagas Disease Test
CHAGAS Cassette
Verification Panels for Assay Development & QC
Seroconversion Panels
New
HIV Test
Anti-HIV (1/2) Rapid Test Kit
New
Gold Member
Human Chorionic Gonadotropin Test
hCG Quantitative - R012
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








Channels

Clinical Chemistry

view channel
Image: The tiny clay-based materials can be customized for a range of medical applications (Photo courtesy of Angira Roy and Sam O’Keefe)

‘Brilliantly Luminous’ Nanoscale Chemical Tool to Improve Disease Detection

Thousands of commercially available glowing molecules known as fluorophores are commonly used in medical imaging, disease detection, biomarker tagging, and chemical analysis. They are also integral in... Read more

Immunology

view channel
Image: The cancer stem cell test can accurately choose more effective treatments (Photo courtesy of University of Cincinnati)

Stem Cell Test Predicts Treatment Outcome for Patients with Platinum-Resistant Ovarian Cancer

Epithelial ovarian cancer frequently responds to chemotherapy initially, but eventually, the tumor develops resistance to the therapy, leading to regrowth. This resistance is partially due to the activation... Read more

Microbiology

view channel
Image: The lab-in-tube assay could improve TB diagnoses in rural or resource-limited areas (Photo courtesy of Kenny Lass/Tulane University)

Handheld Device Delivers Low-Cost TB Results in Less Than One Hour

Tuberculosis (TB) remains the deadliest infectious disease globally, affecting an estimated 10 million people annually. In 2021, about 4.2 million TB cases went undiagnosed or unreported, mainly due to... Read more

Pathology

view channel
Image: The ready-to-use DUB enzyme assay kits accelerate routine DUB activity assays without compromising data quality (Photo courtesy of Adobe Stock)

Sensitive and Specific DUB Enzyme Assay Kits Require Minimal Setup Without Substrate Preparation

Ubiquitination and deubiquitination are two important physiological processes in the ubiquitin-proteasome system, responsible for protein degradation in cells. Deubiquitinating (DUB) enzymes contain around... Read more

Technology

view channel
Image: The HIV-1 self-testing chip will be capable of selectively detecting HIV in whole blood samples (Photo courtesy of Shutterstock)

Disposable Microchip Technology Could Selectively Detect HIV in Whole Blood Samples

As of the end of 2023, approximately 40 million people globally were living with HIV, and around 630,000 individuals died from AIDS-related illnesses that same year. Despite a substantial decline in deaths... Read more

Industry

view channel
Image: The collaboration aims to leverage Oxford Nanopore\'s sequencing platform and Cepheid\'s GeneXpert system to advance the field of sequencing for infectious diseases (Photo courtesy of Cepheid)

Cepheid and Oxford Nanopore Technologies Partner on Advancing Automated Sequencing-Based Solutions

Cepheid (Sunnyvale, CA, USA), a leading molecular diagnostics company, and Oxford Nanopore Technologies (Oxford, UK), the company behind a new generation of sequencing-based molecular analysis technologies,... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.