 |
 |
GEO help: Mouse over screen elements for information. |
|
| Status |
Public on Aug 06, 2022 |
| Title |
BRCAness and Merkel cell carcinoma: Comprehensive molecular study of 35 cases and meta-analysis of the literature |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
SNP genotyping by SNP array
|
| Summary |
Merkel cell carcinoma (MCC) is a rare and aggressive cutaneous neuroendocrine cancer. Management of advanced MCC is mainly based on immune-checkpoint inhibitors (ICI). The high failure rate (up to 75%) warrants investigation of new therapeutic targets. The recent identification of BRCA1 or BRCA2 (BRCA1/2) mutations in some MCC raises the issue of the use of poly-(ADP-Ribose)-polymerase inhibitors (PARPi) in selected advanced cases. The main objective of our study is to determine the accurate frequency of BRCA1/2 pathogenic variants. We studied a novel series of 35 MCC and performed a meta-analysis of BRCA1/2 variants of published cases in the literature. In our series, we detected only one BRCA2 pathogenic variant (nonsense mutation; ENIGMA class 5) and one BRCA2 variant of unknown significance (VUS). The low frequency of BRCA1/2 pathogenic variants in our series of MCC (3%) was confirmed by the meta-analysis of BRCA1/2 variants of the literature. Among the 204 MCC studied for molecular alterations of BRCA1/2, only two BRCA1 pathogenic nonsense mutations were identified (1%), while the vast majority of BRCA1/2 variants were missense mutations classified as VUS. BRCA1/2 pathogenic variants are uncommon in MCC. However, in BRCA-mutated-MCC, PARPi might be a valuable therapeutic option requiring validation by clinical trials.
|
| |
|
| Overall design |
Merkel cell carcinoma
|
| |
|
| Contributor(s) |
Dadone-Montaudié B, Pedeutour F, Kubiniek V, Fabas T, Gaubert A, Kervarrec T, Montaudié H, Burel-Vandenbos F, Cardot-Leccia N, Di Mauro I, Tallet A |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Aug 05, 2022 |
| Last update date |
Aug 08, 2022 |
| Contact name |
Thibault FABAS |
| Organization name |
CHU Nice
|
| Lab |
Génétiques des Tumeurs Solides
|
| Street address |
28 av Valombrose
|
| City |
NICE |
| ZIP/Postal code |
06107 |
| Country |
France |
| |
|
| Platforms (1) |
| GPL21558 |
[OncoScan_CNV] Affymetrix OncoScan CNV FFPE Assay |
|
| Samples (33)
|
|
| Relations |
| BioProject |
PRJNA866483 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE210602_RAW.tar |
984.4 Mb |
(http)(custom) |
TAR (of CEL, OSCHP, TXT) |
| Processed data provided as supplementary file |
|
|
|
|
 |
Less...
More...