Retinoblastoma (RB) is a childhood intraocular cancer initiated by biallelic inactivation of the RB tumor suppressor gene ( RB1 /). RB can be hereditary (germline RB1 pathogenic allele is present) or non‐hereditary. Somatic copy number alterations (SCNAs) contribute to subsequent tumorigenesis. ...
Similarly, deletion of CSMD1 (CUB and Sushi multiple domains 1), a tumor suppressor gene at 8p23, which has been associated with poor prognosis in many solid tumors, including breast, gastric, squamous, head and neck, and hepatocellular carcinomas [19, 26] emerged as recurrent CNA in T-...
as in whole exome sequencing due to the limited gene set in this targeted panel. There were also significantly more mutations in CD-1 versus LB (P<0.01), CD-1 versus HY (P<0.01) and PR versus HY (P<0.05) groups. Tumor mutational burden was calculated and there was a clear associatio...
The transcription of DNA replication factors in the G1-phase of the cell cycle is generally required for progression to the S-phase; however, transcription is typically inhibited to constrain cell proliferation. The retinoblastoma 1 (RB1) protein, a well-known tumor suppressor gene, plays a pivo...
Hereditary retinoblastoma with germ‐line mutation of tumor suppressor gene RB1 is prototype childhood cancer with increased susceptibility for developing second, third, or even fourth primary cancers not only in irradiated field (head and neck region) but also in organs far away from the field of...
Gould 1, Michael Buckley 1, Kee-Ming Chia 1, Neil Portman 1, Elgene Lim 1 2, Dominik Kaczorowski 5, Chia-Ling Chan 5, Kirston Barton 3, Ira W. Deveson 2 3, Martin A. Smith 2 3, Joseph E. Powell 5 6…Susan J. Clark 1 2 7Show more Add to Mendeley Share Cite https://doi...
Box plot center, median; box, quartile 1-3; whiskers, 10th and 90th percentile; dot, outliers. Source data Full size image The NSD2 gene templates two splice isoforms producing a long, catalytically active form (hereafter referred to as NSD2-L) as well as a truncated shorter isoform (...
Small cell lung cancer (SCLC) is highly lethal due to its prevalent metastasis. Most SCLCs have inactivating mutations in TP53 and RB1. We find that loss of YAP expression is key for SCLC cells to acquire rapid ameboid migration and high metastatic poten
This gene is a putative tumor-suppressor gene because of its... T Uchida,T Watanabe,T Kinoshita,... - 《Blood》 被引量: 131发表: 1995年 Frequent disruption of the RB1 pathway in diffuse large B cell lymphoma: prognostic significance of E2F-1 and p16INK4A In the present study, we ...
The TMPRSS2 locus was first recognized as containing a tumor suppressor gene when it was noted to be part of a homozygous deletion in a pancreatic tumor cell line called BxPC3. According to the diagnostic and prognostic method of the present invention, alteration of the wild-type TMPRSS2 ...