|
rs104894229
|
HRAS;LRRC56
|
Neoplasm, Residual
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition to WT1 overexpression, other MRD positive markers were: NPM1 (Type A, B, K), DNMT3A (R882H), MLL-PTD, IDH1 (R132H) and KRAS (G12S).
|
30457973 |
2019 |
|
rs104894229
|
HRAS;LRRC56
|
Alveolar rhabdomyosarcoma
|
|
0.010 |
GeneticVariation |
BEFREE |
One patient with a p.Gly12Ser mutation was diagnosed with retroperitoneal rhabdomyosarcoma alveolar type at the age of 5 years.
|
31394527 |
2019 |
|
rs104894230
|
HRAS;LRRC56
|
Juberg-Marsidi syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated.
|
30891959 |
2019 |
|
rs104894230
|
HRAS;LRRC56
|
Pancreatic carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Importantly, FGTI-2734 inhibited the growth of xenografts derived from four patients with pancreatic cancer with mutant KRAS (2 G12D and 2 G12V) tumors.
|
31227505 |
2019 |
|
rs104894230
|
HRAS;LRRC56
|
Malignant neoplasm of pancreas
|
|
0.010 |
GeneticVariation |
BEFREE |
Importantly, FGTI-2734 inhibited the growth of xenografts derived from four patients with pancreatic cancer with mutant KRAS (2 G12D and 2 G12V) tumors.
|
31227505 |
2019 |
|
rs104894231
|
HRAS;LRRC56
|
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
|
|
0.010 |
GeneticVariation |
BEFREE |
In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated.
|
30891959 |
2019 |
|
rs1057519855
|
HRAS;LRRC56
|
Papillary thyroid carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations in RAS genes (HRAS G13R, KRAS G12D, KRAS Q61R, NRAS Q61R) were detected in benign lesions and HRAS Q61R, NRAS Q61K mutations in PTCs.
|
31085772 |
2019 |
|
rs1057519855
|
HRAS;LRRC56
|
Solid/Multicystic Ameloblastoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Among the BRAF wild-type cases, 1 UAM showed a missense SMO mutation (p.L412F), whereas 2 NRAS (p.Q61R), 2 HRAS (p.Q61R), and 2 FGFR2 (p.C383R) activating mutations were identified in AM.
|
30216733 |
2019 |
|
rs121913233
|
HRAS;LRRC56
|
Solid/Multicystic Ameloblastoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Among the BRAF wild-type cases, 1 UAM showed a missense SMO mutation (p.L412F), whereas 2 NRAS (p.Q61R), 2 HRAS (p.Q61R), and 2 FGFR2 (p.C383R) activating mutations were identified in AM.
|
30216733 |
2019 |
|
rs121913233
|
HRAS;LRRC56
|
Dysplastic Nevus
|
|
0.010 |
GeneticVariation |
BEFREE |
One of the two cases lacking BRAF and NRAS mutations was a dysplastic naevus harbouring an HRAS Q61L hotspot mutation.
|
30791119 |
2019 |
|
rs121913496
|
HRAS;LRRC56
|
Histiocytic sarcoma
|
|
0.010 |
GeneticVariation |
BEFREE |
We have now identified a second missense mutation in PTPN11 (G503V), and a mutation in KRAS (Q61H) present in HS cell lines.
|
31277422 |
2019 |
|
rs121917759
|
HRAS;LRRC56
|
Encephalocraniocutaneous lipomatosis
|
|
0.010 |
GeneticVariation |
BEFREE |
In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated.
|
30891959 |
2019 |
|
rs28933406
|
HRAS;LRRC56
|
Papillary thyroid carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations in RAS genes (HRAS G13R, KRAS G12D, KRAS Q61R, NRAS Q61R) were detected in benign lesions and HRAS Q61R, NRAS Q61K mutations in PTCs.
|
31085772 |
2019 |
|
rs727503094
|
HRAS;LRRC56
|
Malignant neoplasm of pancreas
|
|
0.010 |
GeneticVariation |
BEFREE |
Importantly, FGTI-2734 inhibited the growth of xenografts derived from four patients with pancreatic cancer with mutant KRAS (2 G12D and 2 G12V) tumors.
|
31227505 |
2019 |
|
rs727503094
|
HRAS;LRRC56
|
Pancreatic carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Importantly, FGTI-2734 inhibited the growth of xenografts derived from four patients with pancreatic cancer with mutant KRAS (2 G12D and 2 G12V) tumors.
|
31227505 |
2019 |
|
rs727503094
|
HRAS;LRRC56
|
Organoid Nevus Phakomatosis
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation.
|
30443000 |
2019 |
|
rs727503094
|
HRAS;LRRC56
|
Juberg-Marsidi syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated.
|
30891959 |
2019 |
|
rs104894228
|
HRAS;LRRC56
|
Eccrine porocarcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Hotspot HRAS mutations were identified in two poromas (p.G13R and p.Q61R) and one porocarcinoma (p.G13C).
|
29269125 |
2018 |
|
rs104894228
|
HRAS;LRRC56
|
Rhabdomyosarcoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma.
|
29430633 |
2018 |
|
rs104894228
|
HRAS;LRRC56
|
Adult Rhabdomyosarcoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma.
|
29430633 |
2018 |
|
rs104894228
|
HRAS;LRRC56
|
Childhood Rhabdomyosarcoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma.
|
29430633 |
2018 |
|
rs104894228
|
HRAS;LRRC56
|
Eccrine porocarcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Hotspot HRAS mutations were identified in two poromas (p.G13R and p.Q61R) and one porocarcinoma (p.G13C).
|
29269125 |
2018 |
|
rs1057519855
|
HRAS;LRRC56
|
Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
RNA sequencing and Sanger sequencing identified PIK3CA (p.E545K/p.H1047R) and/or HRAS (p.Q61R) hotspot mutations in 6 of 8 (75%) apocrine carcinomas.
|
29443014 |
2018 |
|
rs1057519855
|
HRAS;LRRC56
|
Eccrine porocarcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Hotspot HRAS mutations were identified in two poromas (p.G13R and p.Q61R) and one porocarcinoma (p.G13C).
|
29269125 |
2018 |
|
rs1057519855
|
HRAS;LRRC56
|
melanoma
|
|
0.010 |
GeneticVariation |
BEFREE |
The rarity of HRAS and KRAS Q61R mutants in malignant melanoma</span> let previous investigations erroneously conclude that SP174 is specific for NRAS Q61R-mutant protein.
|
29206715 |
2018 |