scholarly journals Primary de‐differentiated, trans‐differentiated and undifferentiated melanomas: overview of the clinicopathological, immunohistochemical and molecular spectrum

2021 ◽  
Vol 80 (1) ◽  
pp. 135-149
Author(s):  
Ingrid Ferreira ◽  
Mark J Arends ◽  
Louise Weyden ◽  
David J Adams ◽  
Thomas Brenn
Keyword(s):  
Molecular Spectrum

Expanding the clinical and molecular spectrum of ferroportin disease

2017 ◽  
Vol 55 (05) ◽  
pp. e28-e56
Author(s):  
A Viveiros ◽  
B Schäfer ◽  
A Finkenstedt ◽  
B Henninger ◽  
K Nachbaur ◽  
...  
Keyword(s):  
Molecular Spectrum

scholarly journals Clinicopathologic and Molecular Features of a Series of 41 Biphenotypic Sinonasal Sarcomas Expanding Their Molecular Spectrum

2019 ◽  
Vol 43 (6) ◽  
pp. 747-754 ◽  
Author(s):  
François Le Loarer ◽  
Sophie Laffont ◽  
Tom Lesluyes ◽  
Franck Tirode ◽  
Cristina Antonescu ◽  
...  
Keyword(s):  
Molecular Spectrum ◽  
Molecular Features

scholarly journals SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

2011 ◽  
Vol 32 (7) ◽  
pp. 760-772 ◽  
Author(s):  
Francesca Lepri ◽  
Alessandro De Luca ◽  
Lorenzo Stella ◽  
Cesare Rossi ◽  
Giuseppina Baldassarre ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Molecular Spectrum ◽  
Structural Insights ◽  
Pathogenic Effects

Neurofibromatosis type 1: Molecular spectrum of the NF1 mutations in a large cohort of adult Italian patients

2021 ◽  
Vol 429 ◽  
pp. 118277
Author(s):  
Filomena Napolitano ◽  
Milena Dell'Aquila ◽  
Giuseppina Franzese ◽  
Chiara Terracciano ◽  
Simone Sampaolo ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Large Cohort ◽  
Molecular Spectrum

Expanding the phenotypic and molecular spectrum of NFS1 ‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron‐sulfur cluster containing enzymes

2022 ◽  
Author(s):  
Jennifer H. Yang ◽  
Marisa W. Friederich ◽  
Katarzyna A. Ellsworth ◽  
Aliya Frederick ◽  
Emily Foreman ◽  
...  
Keyword(s):  
Molecular Spectrum ◽  
Iron Sulfur Cluster ◽  
Sulfur Cluster ◽  
Iron Sulfur

Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income Country

2021 ◽  
Vol 67 (06/2021) ◽  
Author(s):  
Sibtain Ahmed ◽  
Min Ni ◽  
Ralph DeBerardinis ◽  
Anasufiza Habib ◽  
Fizza Akbar ◽  
...  
Keyword(s):  
Biotinidase Deficiency ◽  
Middle Income Country ◽  
Molecular Spectrum ◽  
Income Country ◽  
Middle Income ◽  
Lower Middle Income Country

scholarly journals Molecular spectrum of laterally coupled quantum rings under intense terahertz radiation

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Henrikh M. Baghramyan ◽  
Manuk G. Barseghyan ◽  
David Laroze
Keyword(s):  
Terahertz Radiation ◽  
Molecular Spectrum ◽  
Quantum Rings

scholarly journals Prevalence, Clinicopathologic Associations, and Molecular Spectrum of ERBB2 (HER2) Tyrosine Kinase Mutations in Lung Adenocarcinomas

2012 ◽  
Vol 18 (18) ◽  
pp. 4910-4918 ◽  
Author(s):  
Maria E. Arcila ◽  
Jamie E. Chaft ◽  
Khedoudja Nafa ◽  
Sinchita Roy-Chowdhuri ◽  
Christopher Lau ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Molecular Spectrum ◽  
Lung Adenocarcinomas

scholarly journals KRAS and NRAS mutational gene profile of metastatic colorectal cancer patients in Jordan: Molecular spectrum, frequency and distribution pattern

2019 ◽  
Author(s):  
Muhammad Awidi ◽  
Nidaa Ababneh ◽  
Maha Shomaf ◽  
Feras Al Fararjeh ◽  
Laila Owaidi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Metastatic Colorectal Cancer ◽  
Distribution Pattern ◽  
Cancer Patients ◽  
Molecular Spectrum ◽  
Kras Mutations ◽  
Exon 2 ◽  
Ras Mutations ◽  
Colorectal Cancer Patients ◽  
Kras Exon

Abstract Background A constitutively active RAS protein in the absence of stimulation of the epidermal growth factor receptor (EGFR) is the result of mutations in KRAS and NRAS genes. Mutations in the KRAS exon 2 and outside exon 2 have been found to predict the resistance to anti-EGFR monoclonal therapy. A substantial proportion of metastatic colorectal cancer cases (mCRC) exhibit RAS mutations outside KRAS exon 2, particularly in KRAS exon 3 and 4 and NRAS exons 2, 3. No data about RAS mutations outside KRAS exon 2 are available for Jordanian patients with mCRC. We aim to study the molecular spectrum, frequency, and distribution pattern of KRAS and NRAS mutations in Jordanian patients with mCRC. Methods A cohort of 190 Jordanian metastatic colorectal cancer patients were enrolled in the trial. We detected mutations in exon 2 of the KRAS and NRAS gene as well as mutations outside of exon 2 using the StripAssay technique. The KRAS StripAssay covered 29 mutations and 22 NRAS mutations. Results Mutations were observed in 92 (48.42%) cases, and KRAS exon 2 accounted for 76 cases (83.69%). KRAS G12D was the most common mutation, occurring in 18 cases, followed by KRAS G12A in 16 cases, and G12T in 13 cases. Mutations outside of KRAS exon 2 represented 16.3% of the mutated cases. Among those, 6 cases (6.48%) carried mutations in NRAS exon 2, 3 and 10 cases (10.87%) in KRAS exon 3 and 4. Conclusion The frequency of NRAS and KRAS mutations outside of exon 2 appears to be higher in Jordanian patients in comparison with patients from western countries. KRAS mutations outside of exon 2 should be tested routinely to identify patients who should not be treated with anti-EGFR antibodies.

Sign in / Sign up

Export Citation Format

Share Document