Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.R770*
Back to variants list

PTCH1

NM_000264.5:p.R770*

Associated Papers

Phase II Study of Vismodegib in Patients With SMO- or PTCH1-Mutated Tumors: Results From the National Cancer Institute Molecular Analysis for Therapy Choice Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Trial (EAY131) Subprotocol T.

Tsao AS et al.

Jco Precision Oncology, 2025

Clinical vs. molecular diagnosis of Gorlin syndrome: relevance of diagnostic criteria depends on the age of the patients.

Hercent A et al.

Clinical and Experimental Dermatology, 2025

Analysis of Germline and Somatic Mutation in Patients With Developmental Odontogenic Cysts Using Targeted Gene Panel.

Hideshima I et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025

Undifferentiated Carcinoma with Osteoclast-like Giant Cells of the Pancreas: Molecular Genetic Analysis of 13 Cases.

Hrudka J et al.

International Journal of Molecular Sciences, 2024

38542259 (PubMed )
Supplement: ijms-25-03285-s001.zip › ijms-2897629-supplementary.xlsx › ID2

Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome.

Verkouteren BJ et al.

Journal of Clinical Pathology, 2023

Analysis of multiple basal cell carcinomas (BCCs) arising in one individual highlights genetic tumor heterogeneity and identifies novel driver mutations.

Xie P et al.

Journal of Cell Communication and Signaling, 2022

Molecular alterations in basal cell carcinoma subtypes.

Di Nardo L et al.

Scientific Reports, 2021

34168209 (PubMed )
Supplement: 41598_2021_92592_MOESM3_ESM.xlsx › Foglio1

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.

Onodera S et al.

International Journal of Molecular Sciences, 2020

33066274 (PubMed )
Supplement: ijms-21-07559-s001.pdf

Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.

Maturo MG et al.

Scientific Reports, 2020

32409749 (PubMed )
Supplement: 41598_2020_65057_MOESM1_ESM.pdf

Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease.

Wang H et al.

Frontiers in Genetics, 2019

New mutations and an updated database for the patched-1 (PTCH1) gene.

Reinders MG et al.

Molecular Genetics & Genomic Medicine, 2018

PTCH mutations: distribution and analyses.

Lindström E et al.

Human Mutation, 2006

Genomic landscape of advanced basal cell carcinoma: Implications for precision treatment with targeted and immune therapies.

Goodman AM et al.

Oncoimmunology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."