Germline mutation in multiple primary malignancies associated with prostate cancer.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e17505-e17505
Author(s):  
Yiming Gong ◽  
Liancheng Fan ◽  
Yinjie Zhu ◽  
Jiahua Pan ◽  
Jianjun Sha ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Germline Mutation ◽  
Hereditary Disease ◽  
Gene Panel ◽  
Blood Samples ◽  
Multiple Primary Malignancies ◽  
Esr1 Gene ◽  
Pathway Gene ◽  
Multiple Primary ◽  
Germline Variation

e17505 Background: Multiple primary malignancies (MPM) are described as that one individual develop several malignancies that originate from different tissues at the same time or separated (different histology in different location). MPM are also considered as an indicator of germline mutation or hereditary disease. Here we performed next generation sequencing-based 642-gene panel test on the MPM patients to figure out the candidate germline mutation essential for multiple tumorigenesis. Methods: Blood samples from 27 patients diagnosed as MPM with prostate cancer and at least one additional primary cancer from 2018.12 to 2019.12 were collected to detect the germline variation of 642 gene panel. Meanwhile 25 blood samples from patients only diagnosed as prostate cancer were taken as control. After the sequencing results were obtained, the differences between the multiple primary and single primary cohorts were counted. Results: Statistical analysis of the mutations in the multi-primary and single-primary cohorts revealed that differences were concentrated in the following six genes: ESR1, PTPRB, CIC, ANKRD11, BRCA2, MLH1. It was found that the mutations of p.G145S and p.P146Q (frequency 18.5%) of ESR1 gene and p.G1150W (frequency 14.8%) of PTPRB gene which related to angiogenesis were only found in multiple primary cohort. And mutations of growth factor pathway gene CIC (frequency 22.2%), mutation of chromatin remodeling family gene ANKRD11, and two genes of DDR pathway (BRCA2, MLH1) appeared higher in multiple primary cohort, although there was no statistical difference. Conclusions: We found for the first time that the p.G145S and p.P146Q mutations of the estrogen receptor ESR1 gene and the p.G1150W mutation of the angiogenesis-related PTPRB gene may be the drivers of multiple primary prostate cancer, which need further study.

Multiple primary malignancies in patients with prostate cancer: increased risk of secondary malignancies after radiotherapy

2012 ◽  
Vol 18 (6) ◽  
pp. 1078-1084 ◽  
Author(s):  
Kaoru Okajima ◽  
Kazuki Ishikawa ◽  
Tomohiro Matsuura ◽  
Hitoshi Tatebe ◽  
Kazuhisa Fujiwara ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Secondary Malignancies ◽  
Multiple Primary Malignancies ◽  
Increased Risk ◽  
Multiple Primary

scholarly journals Identification of potential targets of microRNA-101-3p in prostate cancer by bioinformatics analysis

2019 ◽  
Author(s):  
Jiaojiao Zhang ◽  
Ke Wang ◽  
Ruhai Bai ◽  
Hua Liang ◽  
Guanjun Zhang ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Tumor Suppressor ◽  
Signaling Pathways ◽  
Target Genes ◽  
Bioinformatics Analysis ◽  
Mapk Pathway ◽  
Regulation Of Transcription ◽  
Hub Genes ◽  
Multiple Primary Malignancies ◽  
Multiple Primary

Abstract Background: MiR-101-3p, a tumor suppressor, has been implicated as a tumor suppressor miRNA in multiple primary malignancies including prostate cancer (PCa). This study aimed to explore target genes and relevant signaling pathways regulated by microRNA-101-3p (miR-101-3p) for further researches in PCa with bioinformatics analysis. Results: 565 target genes were appeared in all databases and enriched in positive regulation of transcription, which were mainly enriched in axon guidance and MAPK pathway. Two important modules were detected from PPI network. Ten hub genes were selected, including MAPK1, PIKFYVE, EGFR, SMARCA4, TOP2B, GSK3B, FOS, RAC1, BCL2 and TAF1. After thoroughly reviewing published literature, we found that 10 target genes and six signaling pathways were truly inhibited by miR-101-3p in various tissues or cells; some of these verified targets were in accordance with our present prediction. Conclusion: This study demonstrated that miR-101-3p target hub genes, including MAPK1, PIKFYVE, EGFR, SMARCA4, TOP2B, GSK3B, FOS, RAC1, BCL2 and TAF1, might promote the development of PCa. However, further experiments are still required to confirm potential functions of these miR-101-3p target genes and pathways in PCa.

Multiple Primary Malignancies in Patients with Head and Neck Cancer

2007 ◽  
Vol 58 (2) ◽  
pp. 205-205
Author(s):  
H. Iguchi ◽  
M. Kusuki ◽  
A. Nakamura ◽  
A. Kanazawa ◽  
K. Hachiya ◽  
...  
Keyword(s):  
Head And Neck Cancer ◽  
Head And Neck ◽  
Neck Cancer ◽  
Multiple Primary Malignancies ◽  
Multiple Primary

Construction of a Comprehensive Diagnostic Scoring Model for Prostate Cancer Based on Six Gene-Panel

2020 ◽  
Author(s):  
Yunfeng Liu ◽  
Simei Qiu ◽  
Dongshan Sun ◽  
Shan Li ◽  
Qiuling Xiang ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Gene Panel ◽  
Scoring Model

scholarly journals Differential Expression of a Panel of Ten CNTN1-Associated Genes during Prostate Cancer Progression and the Predictive Properties of the Panel towards Prostate Cancer Relapse

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 257
Author(s):  
Yan Gu ◽  
Mathilda Jing Chow ◽  
Anil Kapoor ◽  
Xiaozeng Lin ◽  
Wenjuan Mei ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Differential Expression ◽  
Cancer Progression ◽  
Lncap Cell ◽  
Endocrine Resistance ◽  
Gene Panel ◽  
The Cancer Genome Atlas ◽  
Cancer Center ◽  
Poor Overall Survival ◽  
Cell Renal Cell Carcinoma

Contactin 1 (CNTN1) is a new oncogenic protein of prostate cancer (PC); its impact on PC remains incompletely understood. We observed CNTN1 upregulation in LNCaP cell-derived castration-resistant PCs (CRPC) and CNTN1-mediated enhancement of LNCaP cell proliferation. CNTN1 overexpression in LNCaP cells resulted in enrichment of the CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_3 gene set that facilitates endocrine resistance in breast cancer. The leading-edge (LE) genes (n = 10) of this enrichment consist of four genes with limited knowledge on PC and six genes novel to PC. These LE genes display differential expression during PC initiation, metastatic progression, and CRPC development, and they predict PC relapse following curative therapies at hazard ratio (HR) 2.72, 95% confidence interval (CI) 1.96–3.77, and p = 1.77 × 10−9 in The Cancer Genome Atlas (TCGA) PanCancer cohort (n = 492) and HR 2.72, 95% CI 1.84–4.01, and p = 4.99 × 10−7 in Memorial Sloan Kettering Cancer Center (MSKCC) cohort (n = 140). The LE gene panel classifies high-, moderate-, and low-risk of PC relapse in both cohorts. Additionally, the gene panel robustly predicts poor overall survival in clear cell renal cell carcinoma (ccRCC, p = 1.13 × 10−11), consistent with ccRCC and PC both being urogenital cancers. Collectively, we report multiple CNTN1-related genes relevant to PC and their biomarker values in predicting PC relapse.

scholarly journals Multiple primary malignancies involving lung cancer

BMC Cancer ◽  
2015 ◽  
Vol 15 (1) ◽  
Author(s):  
Feng Li ◽  
Wen-Zhao Zhong ◽  
Fei-Yu Niu ◽  
Ning Zhao ◽  
Jin-Ji Yang ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Multiple Primary Malignancies ◽  
Multiple Primary

scholarly journals Multiple Primary Tumors in a Family with Li-Fraumeni Syndrome with a TP53 Germline Mutation Identified by Next-Generation Sequencing

2016 ◽  
Vol 31 (4) ◽  
pp. 461-465 ◽  
Author(s):  
Valentina Zampiga ◽  
Rita Danesi ◽  
Gianluca Tedaldi ◽  
Michela Tebaldi ◽  
Ilaria Cangini ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Analysis ◽  
Germline Mutation ◽  
Tp53 Mutation ◽  
Primary Tumors ◽  
Li Fraumeni Syndrome ◽  
Multiple Primary Tumors ◽  
Targeted Ngs ◽  
Multiple Primary ◽  
Generation Sequencing

Li-Fraumeni syndrome (LFS) is an autosomal dominant disorder occurring at a young age that predisposes individuals to multiple forms of cancer and to a heterogeneous spectrum of malignancies. We describe the clinical history of a patient who had 5 primary malignant cancers and a familiar history consistent with LFS. We analyzed the genomic DNA of the proband and her relatives by next-generation sequencing (NGS) technology using an enrichment protocol for the simultaneous sequencing of 94 genes involved in hereditary cancers. Genetic analysis of the proband revealed a TP53 germline mutation in exon 5 determining a nucleotide alteration at codon 175 (R175H), a hot spot mutation site related to LFS and a reported pathogenic mutation. The proband daughter's and brother's DNA did not carry the TP53 mutation but they had some rare variants in common with the proband, in addition to other variants with a still unclear role. In conclusion, we identified a TP53 mutation in a patient with multiple primary tumors and a family history characterized by a severe susceptibility to cancer. The genetic analysis by targeted NGS led to the identification of the genetic background and to the exclusion of a cancer risk for the family members. Targeted NGS represents an efficient approach for the identification of mutations in families with a heterogeneous phenotype.

Multiple primary malignancies in patients with sporadic pancreatic endocrine tumors

2008 ◽  
Vol 97 (7) ◽  
pp. 592-595 ◽  
Author(s):  
Volker Fendrich ◽  
Jens Waldmann ◽  
Detlef K. Bartsch ◽  
Katja Schlosser ◽  
Matthias Rothmund ◽  
...  
Keyword(s):  
Endocrine Tumors ◽  
Multiple Primary Malignancies ◽  
Pancreatic Endocrine Tumors ◽  
Multiple Primary

The landscape of germline mutations and the relationship with tumor mutation burden in Chinese patients with lung cancer.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10522-10522
Author(s):  
Jian Shi ◽  
Rongfeng Liu ◽  
Guanglei Huang ◽  
Lixing Wang ◽  
Baoen Shan ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Germline Mutation ◽  
Germline Mutations ◽  
Gene Panel ◽  
Chinese Patients ◽  
Literature Report ◽  
Pathogenic Mutations ◽  
Incidence And Mortality ◽  
The Media ◽  
The Relationship

10522 Background: Lung cancer is one of the most common types of cancer, ranking the first in the incidence and mortality of malignant tumors in the world and China. Although studies have been reported that genetic susceptibility to lung cancer is associated with certain germline mutations, the relationship between lung cancer risk and inherited genetic factors remains relatively elusive. However, the effect of germline mutation on TMB in lung cancer has not been explored. Herein, DNA genomic profiling was performed through NGS with a 539-gene panel to explore the germline mutations and the relationship with TMB in Chinese patients with lung cancer. Methods: We retrospectively analyzed the germline mutations through a comprehensive 539-gene profiling of 3541 Chinese patients with lung cancer. 539-gene panel contained germline mutations in 90 hereditary tumor-associated genes. We screened out the pathogenic and likely pathogenic germline mutations according to the standards and guidelines for the interpretation of sequence variants of The American College of Medical Genetics and Genomics (ACMG), and picked out there is no records in Clinvar database and no literature report. TMB of tissue or blood ctDNA in 3541 patients were further analyzed in with pathogenic mutations (P group), with likely pathogenic mutations (LP group), and no germline mutations group (Non-P group). The difference in TMB was analyzed via the Wilcoxon sign test. Results: In 3541 patients with lung cancer, 177 (4.999%) patients were identified harboring pathogenic or likely pathogenic germline mutations, in which 78 P group and 99 LP group, the rest 3364 were Non-P group. The highest prevalence of germline mutation was found in BRCA2 (0.565%), ATM (0.339%), MUTYH (0.282%), and BRCA1 (0.254%). In 177 patients with pathogenic or likely pathogenic germline mutations, 67 mutations were recorded as UNK (unknow) in Clinvar database and no literature report. The media TMB of tissue in P group, LP group and Non-P group were 5.149, 5.535 and 5.547 respectively. The media TMB of blood ctDNA in P group, LP group and Non-P group were 4.257, 3.945 and 4.483 respectively. There was no statistical difference in TMB between P and Non-P groups (tissue p = 0.98; ctDNA p = 0.5). Conclusions: In our study, we firstly identified 67 novel germline mutations and studied on the relationship between germline mutations and TMB in lung cancer, which expanded the understanding of germline mutations.

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