Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family
Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family
About this item
Full title
Author / Creator
Brown, Kevin M. , Xu, Mai , Sargen, Michael , Jang, Hyunbum , Zhang, Mingzhen , Zhang, Tongwu , Zhu, Bin , Jones, Kristie , Kim, Jung , Mendoza, Laura , Hayward, Nicholas K. , Tucker, Margaret A. , Goldstein, Alisa M. , Yang, Xiaohong Rose , Stewart, Douglas R. , Hicks, Belynda , Consonni, Dario , Pesatori, Angela C. , Fargnoli, Maria Concetta , Peris, Ketty , Stratigos, Alex , Menin, Chiara , Ghiorzo, Paola , Puig, Susana , Nagore, Eduardo , Andresson, Thorkell , Nussinov, Ruth , Calista, Donato , Landi, Maria Teresa and MelaNostrum Consortium
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
While several high-penetrance melanoma risk genes are known, variation in these genes fail to explain melanoma susceptibility in a large proportion of high-risk families. As part of a melanoma family sequencing study, including 435 families from Mediterranean populations we identified a novel
NRAS
variant (c.170A > C, p.D57A) in an Italian me...
Alternative Titles
Full title
Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family
Authors, Artists and Contributors
Author / Creator
Xu, Mai
Sargen, Michael
Jang, Hyunbum
Zhang, Mingzhen
Zhang, Tongwu
Zhu, Bin
Jones, Kristie
Kim, Jung
Mendoza, Laura
Hayward, Nicholas K.
Tucker, Margaret A.
Goldstein, Alisa M.
Yang, Xiaohong Rose
Stewart, Douglas R.
Hicks, Belynda
Consonni, Dario
Pesatori, Angela C.
Fargnoli, Maria Concetta
Peris, Ketty
Stratigos, Alex
Menin, Chiara
Ghiorzo, Paola
Puig, Susana
Nagore, Eduardo
Andresson, Thorkell
Nussinov, Ruth
Calista, Donato
Landi, Maria Teresa
MelaNostrum Consortium
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8720902
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8720902
Other Identifiers
ISSN
1389-9600
E-ISSN
1573-7292
DOI
10.1007/s10689-021-00267-9
