Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction.
|
8246952 |
1993 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cardiofaciocutaneous Syndrome (CFCS) is a rare genetic syndrome caused by mutations in one of four genes: BRAF, MAP2K1, MAP2K2, and KRAS.
|
26842671 |
2016 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The importance of evaluation of DNA amplificability in KRAS mutation testing with dideoxy sequencing using formalin-fixed and paraffin-embedded colorectal cancer tissues.
|
20926413 |
2011 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline KRAS mutations were shown recently to be associated with developmental disorders, including Noonan syndrome (NS), cardio-facio-cutaneous syndrome (CFCS), and Costello syndrome (CS).
|
20949621 |
2011 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome) and BRAF genes (phenotype of CFC syndrome).
|
21871821 |
2012 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In total, 35 of 56 (62.5%) patients with CFC syndrome had mutations (3 in KRAS, 24 in BRAF, and 8 in MAP2K1/2).
|
17366577 |
2007 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS.
|
31125963 |
2019 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome.
|
17875937 |
2007 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
|
16474404 |
2006 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
We further defined the phenotypic spectrum associated with KRAS missense mutations and provided the first evidence of clinical differences in patients with KRAS mutations compared with Noonan syndrome affected individuals with heterozygous PTPN11 mutations and CFC patients carrying a BRAF, MEK1 or MEK1 alteration, respectively.
|
17056636 |
2007 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CFCS is genetically heterogeneous and mutations in the KRAS, BRAF, MAP2K1 (MEK1) and MAP2K2 (MEK2) genes, encoding for components of the RAS-mitogen activated protein kinase (MAPK) signaling pathway, have been identified in up to 90% of cases.
|
19156172 |
2009 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Germline KRAS mutations cause Noonan syndrome.
|
16474405 |
2006 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene).
|
17324647 |
2007 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We and others recently discovered novel germline KRAS mutations in individuals diagnosed with Noonan or cardio-facio-cutanous (CFC) syndrome, two clinically overlapping disorders characterized by short stature, distinct facial anomalies, heart defects, and other developmental abnormalities.
|
16921267 |
2006 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.
|
19396835 |
2009 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.
|
21797849 |
2012 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively.
|
21784453 |
2011 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KRAS gene account for only a small proportion of affected Noonan and CFC syndrome patients that present an intermediate phenotype between these two syndromes, with more frequent and severe intellectual disability in NS and less ectodermal involvement in CFC syndrome, as well as atypical clinical findings such as craniosynostosis.
|
22488932 |
2012 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Probing the role of loop 2 in Ras function with unnatural amino acids.
|
8234268 |
1993 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe patients with craniosynostosis and Noonan syndrome due to de novo mutations in PTPN11 and patients with craniosynostosis and CFC syndrome due to de novo mutations in BRAF or KRAS.
|
28650561 |
2017 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Somatic KRAS mutations are often detected in patients with solid and non-solid tumors, whereas germline KRAS mutations are implicated in patients with the Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome and Costello syndrome.
|
30012129 |
2018 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
In conclusion, our data underscore the important role of RAS in the pathogenesis of the group of related disorders including NS, CFCS, and CS, and provide clues to the high phenotypic variability of patients with germline KRAS mutations.
|
20949621 |
2011 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancer.
|
23548132 |
2013 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature.
|
18958496 |
2009 |
Cardio-facio-cutaneous syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in KRAS have recently been identified in a small number of patients with Noonan syndrome and CFC.
|
17056636 |
2007 |