Basal Cell Carcinoma

A set of samples from 293 BCCs were sequenced. 263 were sporadic cases and 30 were Gorlin syndrome. 1 sample from patient ID VS069 had FLT3 c.218G>A resulting in G73E. Thie patient sporadic BCC, and w… (full text at CIViC)

PMID 26950094 · Bonilla et al., 2016 · Open in CIViC

In a phase 2 trial (NCT01327053), the SMO inhibitor sonidegib was tested in patients with metastatic or locally advanced basal cell carcinoma (BCC) who had not previously received a hedgehog pathway i… (full text at CIViC)

PMID 28846163 · Lear et al., 2018 · Open in CIViC

In a phase 2 trial (NCT00833417) the SMO inhibitor vismodegib was tested in patients (21-101 years old) with metastatic or locally advanced basal cell carcinoma at a dose of 150 mg daily. Of note, b… (full text at CIViC)

PMID 22670903 · Sekulic et al., 2012 · Open in CIViC

In a basal cell carcinoma patient harboring a PTCH1 Q84* nonsense mutation, a complete response to vismodegib monotherapy was reported at 5 months of treatment.

PMID 25306392 · Pricl et al., 2015 · Open in CIViC

In a phase 1 study (NCT00607724), an advanced, chemotherapy-refractory basal cell carcinoma patient harboring a PTCH1 Q938* nonsense mutation was associated with a partial response to vismodegib monot… (full text at CIViC)

PMID 19726763 · Von Hoff et al., 2009 · Open in CIViC

In a phase 1 study (NCT00607724), an advanced, chemotherapy-refractory basal cell carcinoma patient harboring a PTCH1 W236* nonsense mutation was associated with a partial response to vismodegib monot… (full text at CIViC)

PMID 19726763 · Von Hoff et al., 2009 · Open in CIViC

In a phase 1 study (NCT00607724), an advanced, chemotherapy-refractory basal cell carcinoma patient harboring a PTCH1 W863* nonsense mutation, was associated with a partial response to vismodegib mono… (full text at CIViC)

PMID 19726763 · Von Hoff et al., 2009 · Open in CIViC

In an in vitro study, a C3H10T1/2 cell line expressing a SMO A459V mutation, demonstrated resistance to vismodegib treatment, compared to C3H10T1/2 cells expressing wild-type SMO. Resistance was deter… (full text at CIViC)

PMID 25759019 · Sharpe et al., 2015 · Open in CIViC

In an in vitro study, a C3H10T1/2 cell line expressing a SMO C469Y mutation, demonstrated resistance to vismodegib treatment, compared to C3H10T1/2 cells expressing wild-type SMO. Resistance was deter… (full text at CIViC)

PMID 25759019 · Sharpe et al., 2015 · Open in CIViC

In 3 basal cell carcinoma (BCC) patients harboring a SMO D473G mutation, SMO D473G mutation was reported to be resistant to vismodegib treatment. In an in vitro study, mouse embryonic fibroblasts (ME… (full text at CIViC)

PMID 25759020 · Atwood et al., 2015 · Open in CIViC

D473 mutations were identified in 5/30 resistant basal cell carcinomas. Crystal structure indicated this mutation interacts with a water molecule in the ligand binding pocket, putatively altering its … (full text at CIViC)

PMID 25759020 · Atwood et al., 2015 · Open in CIViC

In a basal cell carcinoma patient harboring a PTCH1 Q84* nonsense ( a known sensitizing mutation to vismodegib treatment) and SMO D473Y co-mutations, SMO D473Y was reported to confer resistance to vis… (full text at CIViC)

PMID 25306392 · Pricl et al., 2015 · Open in CIViC

In a basal cell carcinoma patient with liver, lung and bone metastases harboring a SMO G497W mutation, SMO G497W was reported to confer resistance to vismodegib monotherapy. The patient was initially … (full text at CIViC)

PMID 25306392 · Pricl et al., 2015 · Open in CIViC

In an in vitro study, a C3H10T1/2 cell line expressing a SMO I408V mutation, demonstrated resistance to vismodegib treatment, compared to C3H10T1/2 cells expressing wild-type SMO. Resistance was dete… (full text at CIViC)

PMID 25759019 · Sharpe et al., 2015 · Open in CIViC

An Arab basal cell carcinoma patient harboring SMO L412F mutation was associated with response to vismodegib monotherapy. Prior to the identification of the mutation, the patient was treated with acit… (full text at CIViC)

PMID 26822128 · Khamaysi et al., 2016 · Open in CIViC

In an in vitro study, a C3H10T1/2 cell line expressing a SMO L412F mutation, demonstrated resistance to vismodegib treatment, compared to C3H10T1/2 cells expressing wild-type SMO. Resistance was deter… (full text at CIViC)

PMID 25759019 · Sharpe et al., 2015 · Open in CIViC

In an in vitro study, mouse embryonic fibroblasts (MEFs), null for the Smo mouse gene expressing SMO L412F mutation, demonstrated resistance to vismodegib treatment (IC50: >320 nmol/L vs. 8.23 nmol/L)…

Basal cell carcinomas with ligand-binding pocket or constitutively active mutations in the SMO gene were sensitive to inhibition of downstream hedgehog signaling with PSI (aPKC-ι/λ/GLI inhibitor) or a… (full text at CIViC)

PMID 25759020 · Atwood et al., 2015 · Open in CIViC

In basal cell carcinoma, H231R, D473G, W281C and Q477E mutations conferred resistance to SMO-inhibitor vismodegib. SMO mutations were identified in 22 of 44 resistant basal cell carcinomas in 15 patie… (full text at CIViC)

PMID 25759020 · Atwood et al., 2015 · Open in CIViC

In an in vitro study, mouse embryonic fibroblasts (MEFs) null for the Smo mouse gene, expressing SMO Q477E mutation, demonstrated resistance to vismodegib treatment (IC50: >320 nmol/L vs. 8.23 nmol/L)… (full text at CIViC)

PMID 25759020 · Atwood et al., 2015 · Open in CIViC

In a retrospective study of 15 vismodegib-resistant basal cell carcinoma (BCC) patients, a BCC patient harboring SMO S278I mutation was reported to be resistant to vismodegib monotherapy.

PMID 25759020 · Atwood et al., 2015 · Open in CIViC

In an in vitro study, a C3H10T1/2 cell line expressing a SMO S533N mutation, demonstrated resistance to vismodegib treatment, compared to C3H10T1/2 cells expressing wild-type SMO. Resistance was deter… (full text at CIViC)

PMID 25759019 · Sharpe et al., 2015 · Open in CIViC

In an in vitro study, a C3H10T1/2 cell line expressing a SMO T241M mutation, demonstrated resistance to vismodegib treatment, compared to C3H10T1/2 cells expressing wild-type SMO. Resistance was deter… (full text at CIViC)

PMID 25759019 · Sharpe et al., 2015 · Open in CIViC

In a basal cell carcinoma (BCC) patient harboring PTCH1 inactivating alterations (known to be sensitizing to vismodegib treatment) and a SMO V321M mutation, SMO V321M was associated with acquired resi… (full text at CIViC)

PMID 25199678 · Brinkhuizen et al., 2014 · Open in CIViC

In an in vitro study, mouse embryonic fibroblasts (MEFs), null for the Smo mouse gene expressing SMO V321M mutation, demonstrated resistance to vismodegib treatment (IC50: >320 nmol/L vs. 8.23 nmol/L)… (full text at CIViC)

PMID 25759020 · Atwood et al., 2015 · Open in CIViC

In an in vitro study, a C3H10T1/2 cell line expressing a SMO V321M mutation, demonstrated resistance to vismodegib treatment, compared to C3H10T1/2 cells expressing wild-type SMO. Resistance was deter…

In an in vitro study, mouse embryonic fibroblasts (MEFs) null for the Smo mouse gene, expressing SMO W281C mutation, demonstrated resistance to vismodegib treatment (IC50: >320 nmol/L vs. 8.23 nmol/L)… (full text at CIViC)

PMID 25759020 · Atwood et al., 2015 · Open in CIViC

In an in vitro study, a C3H10T1/2 cell line expressing a SMO W281C mutation, demonstrated resistance to vismodegib treatment, compared to C3H10T1/2 cells expressing wild-type SMO. Resistance was deter… (full text at CIViC)

PMID 25759019 · Sharpe et al., 2015 · Open in CIViC

In a basal cell carcinoma patient harboring PTCH1 inactivating alterations (known to be sensitizing to vismodegib treatment) and a SMO W281L mutation, SMO W281L was associated with acquired resistance… (full text at CIViC)

PMID 25199678 · Brinkhuizen et al., 2014 · Open in CIViC

Reifenberger et al used SSCP/Heteroduplex analysis and direct sequencing to identify mutations in PTCH or SMO in 31 sporadic basal cell carcinomas (BCCs) and 15 primitive neuroectodermal tumors (PNETs… (full text at CIViC)

PMID 9581815 · Reifenberger et al., 1998 · Open in CIViC

Xie et al identified 3 / 47 sporadic basal cell carcinomas (BCC) with somatic mutations in SMO, 2 of which were W535L. Whole blood from these patients, as a normal control, did not contain this mutati… (full text at CIViC)

PMID 9422511 · Xie et al., 1998 · Open in CIViC

In 5 basal cell carcinoma patients harboring a SMO W535L mutation, SMO W535L was reported to be resistant to vismodegib treatment. In an in vitro study, mouse embryonic fibroblasts (MEFs) null for the…