Quick glance at Fanconi anemia and BRCA2/FANCD1

Salma M. AlDallal; Salma M. AlDallal

doi:10.3934/medsci.2019.4.326

AIMS Medical Science

2019, Volume 6, Issue 4: 326-336. doi: 10.3934/medsci.2019.4.326

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Review

Quick glance at Fanconi anemia and BRCA2/FANCD1

Salma M. AlDallal ^,

Hematology Laboratory Specialist, Amiri Hospital, Kuwait

Received: 07 November 2019 Accepted: 19 December 2019 Published: 23 December 2019

Fanconi anemia (FA) is a rare genetic disorder characterized by multiple congenital malformations, progressive bone marrow failure, and susceptibility to cancer. The FA-D1 subtype is associated with biallelic mutations in the breast cancer 2 genes also known as FANCD1. Patients with this mutation display severe disease phenotype. In addition, different types of cancer other than breast cancer are associated with this mutation, such as leukemia, solid tumors of the central nervous system, etc. In this review, we have surveyed the literature on FA, FA genes, their biological roles, and specifically discussed the current information available on the FA-D1 disease subtype. The observations show that the timing of biallelic loss of BRCA2 can establish the specific cancer spectrum. The knowledge about effects of the FANCD1/BRCA2 mutation on FA and cancer pathogenesis can be used for further understanding the FA-D1 subtype of the disease.
- Fanconi anemia,
- interstrand crosslink,
- ubiquitylation,
- FANCD1,
- BRCA2
Citation: Salma M. AlDallal. Quick glance at Fanconi anemia and BRCA2/FANCD1[J]. AIMS Medical Science, 2019, 6(4): 326-336. doi: 10.3934/medsci.2019.4.326

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Abstract

Fanconi anemia (FA) is a rare genetic disorder characterized by multiple congenital malformations, progressive bone marrow failure, and susceptibility to cancer. The FA-D1 subtype is associated with biallelic mutations in the breast cancer 2 genes also known as FANCD1. Patients with this mutation display severe disease phenotype. In addition, different types of cancer other than breast cancer are associated with this mutation, such as leukemia, solid tumors of the central nervous system, etc. In this review, we have surveyed the literature on FA, FA genes, their biological roles, and specifically discussed the current information available on the FA-D1 disease subtype. The observations show that the timing of biallelic loss of BRCA2 can establish the specific cancer spectrum. The knowledge about effects of the FANCD1/BRCA2 mutation on FA and cancer pathogenesis can be used for further understanding the FA-D1 subtype of the disease.

Acknowledgments

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Conflict of interest

The author declares no conflicts of interest in this paper.

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