Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics

Bogliolo, Massimo; Surrallés, Jordi

doi:10.1016/j.gde.2015.07.002

Cited by 162 publications

(171 citation statements)

References 110 publications

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“…More recently, it has been recognized that mutation carriers of some of the FA genes (e.g., parents of the FA patients) may actually develop HBOC and that the other HBOC genes (i.e., BRCA1 (Domchek et al 2013, Sawyer et al 2015) can cause an FA-like disorder when biallelically mutated (Bogliolo & Surrallés 2015). Thus, HBOC and the FA genes do overlap to some extent (Tables 1 and 2).…”

Section: :10mentioning

confidence: 99%

“…So far, nineteen 'FA genes' have been identified and are thought to function in the ICL repair pathway (Kitao & Takata 2011, Bogliolo & Surrallés 2015, Ceccaldi et al 2016. These FA pathway genes are classified into three subgroups by their functional roles in the ICL repair as explained below (Fig.…”

Section: Fa Fa Pathway and Icl Repairmentioning

confidence: 99%

“…This module is reported to be required for incision/unhooking of the crosslink during ICL repair (Knipscheer et al 2009, Klein Douwel et al 2014, Duxin & Walter 2015, and thus functions in the conversion of an ICL to a DSB. The FA core complex includes FA proteins FANCA, B, C, E, F, G, J, L, M and FA-associated proteins, such as FAAP24, FAAP20 and FAAP100 , Bogliolo & Surrallés 2015, Ceccaldi et al 2016. In response to an ICL and/or a stalled replication fork, the FA core complex is somehow activated downstream of the checkpoint kinase ATR-ATRIP through multiple phosphorylation of FANCI (Ishiai et al 2008), FANCM (Singh et al 2013) or FANCA (Collins et al 2009) and monoubiquitinates FANCD2 at lysine 561, which is a critical activating event in the FA pathway (Garcia-Higuera et al 2001, Matsushita et al 2005.…”

Section: The Fa Core Complex and The Key Downstream Complex Consistinmentioning

confidence: 99%

“…current understanding, this event depends on the monoubiquitinated D2-I complex and is carried out by the nuclease complex SLX4-XPF (Knipscheer et al 2009, Long et al 2011, Kim et al 2013, Hodskinson et al 2014, Klein Douwel et al 2014, Duxin & Walter 2015. SLX4/FANCP is a large protein that itself can function as a scaffold and is mutated in FA-P patients , Bogliolo & Surrallés 2015, Ceccaldi et al 2016. SLX4 accumulates in the chromatin containing DNA damage via its tandem UBZ4 domains.…”

Section: The Nucleases In the Fa Pathwaymentioning

confidence: 99%

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Defects in homologous recombination repair behind the human diseases: FA and HBOC

Katsuki

Takata

2016

Endocrine-Related Cancer

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Hereditary breast and ovarian cancer (HBOC) syndrome and a rare childhood disorder Fanconi anemia (FA) are caused by homologous recombination (HR) defects, and some of the causative genes overlap. Recent studies in this field have led to the exciting development of PARP inhibitors as novel cancer therapeutics and have clarified important mechanisms underlying genome instability and tumor suppression in HR-defective disorders. In this review, we provide an overview of the basic molecular mechanisms governing HR and DNA crosslink repair, highlighting BRCA2, and the intriguing relationship between HBOC and FA.

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Section: :10mentioning

confidence: 99%

Section: Fa Fa Pathway and Icl Repairmentioning

confidence: 99%

Section: The Fa Core Complex and The Key Downstream Complex Consistinmentioning

confidence: 99%

Section: The Nucleases In the Fa Pathwaymentioning

confidence: 99%

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Defects in homologous recombination repair behind the human diseases: FA and HBOC

Katsuki

Takata

2016

Endocrine-Related Cancer

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“…Fanconi anemia (FA, OMIM 227650) is a rare autosomal recessive disorder characterized by bone marrow failure, congenital growth abnormalities, hypersensitivity to interstrand crosslink-inducing agents, chromosomal instability and a predisposition to cancers, especially leukemia, head and neck cancers as well as breast and ovarian cancers (Garber & Offit 2005, Bogliolo & Surrallés 2015. There are as many as 19 genes associated with the FA pathway, a subset of the DSBs repair system (Ceccaldi et al 2016).…”

Section: Germline Mutations Affecting Dna Damage Responsementioning

confidence: 99%

Germline mutation contribution to chromosomal instability

Chan

Ngeow

2017

Endocrine-Related Cancer

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Genomic instability is a feature of cancer that fuels oncogenesis through increased frequency of genetic disruption, leading to loss of genomic integrity and promoting clonal evolution as well as tumor transformation. A form of genomic instability prevalent across cancer types is chromosomal instability, which involves karyotypic changes including chromosome copy number alterations as well as gross structural abnormalities such as transversions and translocations. Defects in cellular mechanisms that are in place to govern fidelity of chromosomal segregation, DNA repair and ultimately genomic integrity are known to contribute to chromosomal instability. In this review, we discuss the association of germline mutations in these pathways with chromosomal instability in the background of related cancer predisposition syndromes. We will also reflect on the impact of genetic predisposition to clinical management of patients and how we can exploit this vulnerability to promote catastrophic genomic instability as a therapeutic strategy.

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Hereditary Cancer Syndromes: Risk Assessment and Genetic Counseling

Webster

Bannon

Hyde

et al. 2019

Holland‐Frei Cancer Medicine

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Overview Understanding the etiology of cancer combines a multitude of factors including genetic, environmental, health, and lifestyle influences on the pathway to malignancy. While single‐gene‐inherited causes for cancer account for only 5–10% of cancer cases, identifying these individuals and their family members can provide insights into tumorigenesis, improvement in therapeutic outcomes, and prevention of cancer development in some cases. The process of evaluating an individual's cancer history as well as their family history is key in ascertaining those at risk for hereditary cancer.

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Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics

Cited by 162 publications

References 110 publications

Defects in homologous recombination repair behind the human diseases: FA and HBOC

Defects in homologous recombination repair behind the human diseases: FA and HBOC

Germline mutation contribution to chromosomal instability

Hereditary Cancer Syndromes: Risk Assessment and Genetic Counseling

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