Article ; Online: A Novel DNA Variant in
International journal of molecular sciences
2024 Volume 25, Issue 5
Abstract: Colorectal cancer is the third leading cause of death from neoplasia worldwide. Thanks to new screening programs, we are now seeing an increase in Early Onset of ColoRectal Cancer (EOCRC) in patients below the age of 50. Herein, we report a clinical case ...
Abstract | Colorectal cancer is the third leading cause of death from neoplasia worldwide. Thanks to new screening programs, we are now seeing an increase in Early Onset of ColoRectal Cancer (EOCRC) in patients below the age of 50. Herein, we report a clinical case of a woman affected by EOCRC. This case illustrates the importance of genetic predisposition testing also in tumor patients. Indeed, for our patient, we used a combined approach of multiple molecular and cellular biology technologies that revealed the presence of an interesting novel variant in the |
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MeSH term(s) | Female ; Humans ; Middle Aged ; Colorectal Neoplasms/pathology ; Colonic Neoplasms/genetics ; Genetic Testing ; Genetic Predisposition to Disease ; DNA ; DNA Helicases/genetics ; Nuclear Proteins/genetics ; Transcription Factors/genetics |
Chemical Substances | DNA (9007-49-2) ; SMARCA4 protein, human (EC 3.6.1.-) ; DNA Helicases (EC 3.6.4.-) ; Nuclear Proteins ; Transcription Factors |
Language | English |
Publishing date | 2024-02-27 |
Publishing country | Switzerland |
Document type | Case Reports |
ZDB-ID | 2019364-6 |
ISSN | 1422-0067 ; 1422-0067 ; 1661-6596 |
ISSN (online) | 1422-0067 |
ISSN | 1422-0067 ; 1661-6596 |
DOI | 10.3390/ijms25052716 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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