Background: RAS (NRAS + KRAS) mutation testing is required in addition to simple KRAS testing prior to initiating anti-epidermal-growth-factor-receptor (EGFR) antibodies (MAb) as in metastatic colorectal cancer (mCRC).

Aims: To assess prescription and implementation rates of RAS/KRAS mutation testing. To describe the RAS/KRAS mutation test procedure and its impact on therapeutic strategy.

Patients And Methods: Observational retrospective study conducted from June to September 2014 in all consecutive patients with newly diagnosed mCRC.

Results: Data from 375 patients (male: 57.8%; mean age, 65.7 ± 11.7 years) were analysed. RAS/KRAS mutation testing was prescribed in 90.1% of patients (338/375). The test was prescribed within 1 month around mCRC diagnosis and prior to first-line therapy in 73.1% (242/331) and 85.4% (280/328) of patients, respectively. Time from test request to receipt of results was 24.6 ± 17.2 days. 59.7% of patients (190/318) had a mutation, mainly KRAS (47.9%; 152/317). Anti-EGFR MAb was prescribed in 90.9% of RAS-wild-type cases (60/66), consistent with the goal of genotyping-testing in this population.

Conclusion: In 2014, RAS genotyping-testing in addition to KRAS testing was routinely prescribed and performed in mCRC patients in France. Time to receive results remains long and must be reduced so as to match clinical practice.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.dld.2017.12.029DOI Listing

Publication Analysis

Top Keywords

mutation testing
16
ras/kras mutation
12
metastatic colorectal
8
colorectal cancer
8
clinical practice
8
kras testing
8
patients
7
testing
6
mutation
5
ras mutation
4

Similar Publications

The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication.

View Article and Find Full Text PDF

Fanconi anemia (FA) is a rare genetic disorder that affects multiple systems in the body and is the most prevalent congenital syndrome, leading to bone marrow failure. Twenty-two genes have been identified as contributors to the disease. Significant advancements have been made in the past 2 decades in understanding the genetic and pathophysiological processes involved.

View Article and Find Full Text PDF

Cardiac amyloidosis: when to suspect and how to confirm.

J Cardiovasc Med (Hagerstown)

February 2025

Center for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI), University of Trieste.

Diagnosing cardiac amyloidosis (CA) is challenging because of its phenotypic heterogeneity, multiorgan involvement requiring interaction among experts in different specialties and subspecialties, lack of a single noninvasive diagnostic tool, and still limited awareness in the medical community. Missing or delaying the diagnosis of CA may profoundly impact on patients' outcomes, as potentially life-saving treatments may be omitted or delayed. The suspicion of CA should arise when "red flags" for this condition are present, together with increased left ventricular wall thickness.

View Article and Find Full Text PDF

Tigecycline (Tgc), a third-generation tetracycline is found as the last line of defense against multi-drug resistant bacteria. Recent increased rate of resistance to tgc, a human-restricted agent among animal bacteria poses a significant global health challenge. Overuse of first generation tetracyclines (Tet) and phenicols in animals have been suggested to be associated with Tgc resistance development.

View Article and Find Full Text PDF

Whole exome sequencing reveals ABCD1 variant as a potential contributor to male infertility.

Mol Biol Rep

January 2025

Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.

Background: Male infertility (MI) is a polygenic condition mainly induced by spermatogenic failure/arrest or systemic disease with a large clinical spectrum. Lately, genetic sequencing allowed the identification of several variants implicated in both aforesaid situations.

Methods And Results: In this case study, we performed whole exome sequencing (WES) on the genomic DNA of a 37-year-old Moroccan man with Non-Obstructive Azoospermia.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!