scholarly journals Exploring the role of genes associated with familial cancer syndromes on the development of multiple primary tumors

2019 ◽  
Vol 30 ◽  
pp. v811
Author(s):  
A.V. Mitkova ◽  
R. Dodova ◽  
M. Koleva ◽  
A. Andreeva ◽  
M. Tzekova-Chernopolska ◽  
...  
Keyword(s):  
Familial Cancer ◽  
Primary Tumors ◽  
Multiple Primary Tumors ◽  
Multiple Primary ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

The Role of Surgery in the Prevention of Familial Cancer Syndromes of the Gastrointestinal Tract

2002 ◽  
Vol 20 (1) ◽  
pp. 91-101
Author(s):  
A. Koliopanos ◽  
M. Wirtz ◽  
M.W. Büchler ◽  
H. Friess
Keyword(s):  
Gastrointestinal Tract ◽  
Familial Cancer ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

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.

Familial Cancer Syndromes

2008 ◽  
pp. 449-466
Author(s):  
Michelle P. Elieff ◽  
Antonio Lopez-Beltran ◽  
Rodolfo Montironi ◽  
Liang Cheng
Keyword(s):  
Familial Cancer ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

scholarly journals Bilateral symmetric Merkel cell carcinomas of the dorsal hands: multiple primary tumors or early metastasis?

2021 ◽  
Vol 7 (5) ◽  
pp. 730
Author(s):  
Jennifer Seyffert ◽  
Alysa Herman ◽  
Brian Katz ◽  
Daniel Rivlin
Keyword(s):  
Viral Infection ◽  
Cell Carcinoma ◽  
Neuroendocrine Tumor ◽  
Merkel Cell ◽  
Unique Case ◽  
Primary Tumors ◽  
Solitary Nodule ◽  
Multiple Primary Tumors ◽  
Multiple Primary ◽  
Head Neck

<p>Merkel cell carcinoma (MCC) is an aggressive and uncommon neuroendocrine tumor which clinically presents as a rapidly growing solitary nodule or plaque located in sun exposed areas on the head, neck, and extremities. Merkel cell carcinomas can be UV-induced or result from viral infection with the Merkel cell polyomavirus (MCV). We present a unique case of bilateral symmetric Merkel cell carcinomas located on the dorsal hands and briefly discuss options for genomic investigation to delineate if the tumors are multiple primary tumors or result of metastatic disease.</p>

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