作者
Panagiota Gianni, Evangelia Matenoglou, Georgios Geropoulos, Nirav Agrawal, Harsha Adnani, Stefanos Zafeiropoulos, Santiago J Miyara, Sara Guevara, James M Mumford, Ernesto P Molmenti, Dimitrios Giannis
发表日期
2022/1/1
来源
Clinical Breast Cancer
卷号
22
期号
1
页码范围
10-25
出版商
Elsevier
简介
The development of breast cancer depends on several risk factors, including environmental, lifestyle and genetic factors. Despite the evolution of DNA sequencing techniques and biomarker detection, the epidemiology and mechanisms of various breast cancer susceptibility genes have not been elucidated yet. Dysregulation of the DNA damage response causes genomic instability and increases the rate of mutagenesis and the risk of carcinogenesis. The Fanconi Anemia (FA) pathway is an important component of the DNA damage response and plays a critical role in the repair of DNA interstrand crosslinks and genomic stability. The FA pathway involves 22 recognized genes and specific mutations have been identified as the underlying defect in the majority of FA patients. A thorough understanding of the function and epidemiology of these genes in breast cancer is critical for the development and implementation …
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