The Common Germline TP53-R337H Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model
نویسندگان
چکیده
منابع مشابه
LETTER TO JMG Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation
B C Figueiredo, R Sandrini, G P Zambetti, R M Pereira, C Cheng, W Liu, L Lacerda, M A Pianovski, E Michalkiewicz, J Jenkins, C Rodriguez-Galindo, M J Mastellaro, S Vianna, F Watanabe, F Sandrini, S B I Arram, P Boffetta, R C Ribeiro . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملPenetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.
BACKGROUND An inherited germline P53 mutation has been identified in cases of childhood adrenocortical carcinoma (ACT), a neoplasm with a high incidence in southern Brazil. The penetrance of ACT in carriers of the point mutation, which encodes an arginine-to-histidine substitution at codon 337 of TP53 (R337H), has not been determined. OBJECTIVE To investigate the penetrance of childhood ACT i...
متن کاملThe R337H mutation in TP53 and breast cancer in Brazil
BACKGROUND Germline mutations in p53 are associated with the Li-Fraumeni Syndrome which is characterized by childhood cancers, including pediatric adrenal cortical carcinomas and early onset breast cancer. The high incidence of adrenal cortical carcinomas in southern Brazil is mostly attributed to the R337H mutation in TP53. The relatively high population frequency of this mutation in southern ...
متن کاملIncreased Incidence of Choroid Plexus Carcinoma Due to the Germline TP53 R337H Mutation in Southern Brazil
BACKGROUND Choroid plexus carcinomas (CPC) are rare tumors predominantly found in children. Given the high frequency of the germline R337H mutation in the TP53 gene in southern Brazil, we have evaluated the frequency of the R337H mutation in families with CPC in children. METHODOLOGY/PRINCIPAL FINDINGS The present series included 29 patients that were admitted to the same institution from 199...
متن کاملThe mouse rib-vertebrae mutation is a hypomorphic Tbx6 allele
Rib-vertebrae (rv) is an autosomal recessive mutation in mouse that affects somite formation, morphology, and patterning. Expression of Notch pathway components is affected in the paraxial mesoderm of rv mutant embryos, and rv and a null allele of the Notch ligand delta1 show non-allelic non-complementation. By fine genetic mapping and complementation testing we have identified Tbx6, a gene ess...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Cancer Research
سال: 2021
ISSN: 0008-5472,1538-7445
DOI: 10.1158/0008-5472.can-20-1750