"The cause is considered a founder mutation in the NBS1 gene (c.657_661del5) on chromosome 8q21. It is most common in West Slavic populations. The role of the NBS1 protein is to arrest the cell cycle in the S phase when there are errors in the cell DNA and to interact with FANCD2, which can activate the BRCA1/BRCA2 pathway of DNA repair. As a result of an NBS1 defect, there is a higher frequency of malignancies 1."
"CT "
"The cause is considered a founder mutation in the NBS1 gene (c.657_661del5) on chromosome 8q21. It is most common in West Slavic populations. The role of the NBS1 protein is to arrest the cell cycle in the S phase when there are errors in the cell DNA and to interact with FANCD2, which can activate the BRCA1/BRCA2 pathway of DNA repair. As a result of an NBS1 defect, there is a higher frequency of malignancies 1."
"The cause is considered a founder mutation in the NBS1 gene (c.657_661del5) on chromosome 8q21. It is most common in West Slavic populations. The role of the NBS1 protein is to arrest the cell cycle in the S phase when there are errors in the cell DNA and to interact with FANCD2, which can activate the BRCA1/BRCA2 pathway of DNA repair. As a result of an NBS1 defect, there is a higher frequency of malignancies 1."
Expected headings
"CT "
"There is no specific treatment for this syndrome. Haematopoietic stem cell transplantation can be considered. The prognosis is poor due to the high frequency of malignancies."