A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated With Familial Peripheral Neuroblastic Tumors in Two Siblings

A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated With Familial Peripheral Neuroblastic Tumors in Two Siblings

ObjectivesTo investigate the genetic variants that are responsible for peripheral neuroblastic tumors (PNTs) oncogenesis in one family case.Materials and MethodsOne family was recruited, including the healthy parents, sister affected by neuroblastoma (NB), and brother who suffered from ganglioneurom...

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Bibliographic Details
Main Authors: Yeran Yang, Jiwei Chen, Hong Qin, Yaqiong Jin, Li Zhang, Shen Yang, Huanmin Wang, Libing Fu, Enyu Hong, Yongbo Yu, Jie Lu, Yan Chang, Xin Ni, Min Xu, Tieliu Shi, Yongli Guo
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Genetics
Subjects:
peripheral neuroblastic tumors
neuroblastoma
ganglioneuroma
whole-genome sequencing
RNA-Seq
BRCA2
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.652718/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.652718/full

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