The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
Prevalence of bladder cancer in Costello syndrome: new insights to drive clinical decision-making
This study included 13 patients above 10 years of age with molecular diagnosis of CS. Screening cystoscopies (31 total procedures) were performed to exclude BC. Any lesion was analyzed through cold-cup biopsy or trans-urethral resection of the bladder. According to histology, patients were followed-up with urinalysis and abdominal ultrasound yearly, and cystoscopies every 12-24 months. During study enrollment, bladder lesions (often multifocal) were detected in 11/13 patients. Histological analysis documented premalignant lesions in 90% of cystoscopies performed, epithelial dysplasia in 71%, and papillary urothelial neopla...
Source: Clinical Genetics - January 17, 2022 Category: Genetics & Stem Cells Authors: Chiara Leoni Filomena Valentina Paradiso Nazario Foschi Marta Tedesco Francesco Pierconti Sara Silvaroli Mario Di Diego Lisa Birritella Francesca Pantaleoni Claudia Rendeli Roberta Onesimo Germana Viscogliosi Pierfrancesco Bassi Lorenzo Nanni Maurizio Gen Source Type: research
