Fanconi anaemia and leukaemia - clinical and molecular aspects

British Journal of Haematology
Marc Tischkowitz, I Dokal

Abstract

Fanconi anaemia (FA) is an autosomal recessive chromosomal instability disorder, which is characterized by congenital abnormalities, defective haemopoiesis and a high risk of developing acute myeloid leukaemia and certain solid tumours. It can be caused by mutations in at least eight different genes. Molecular studies have established that a common pathway exists, both between the FA proteins and other proteins involved in DNA damage repair such as NBS1, ATM, BRCA1 and BRCA2. This review summarizes the general clinical and specific haematological features and the current management of FA. Recent molecular advances will also be discussed in the context of the cellular and clinical FA phenotype, with particular emphasis on the haematological aspects of the condition.

References

Jun 29, 1976·Human Genetics·T M SchroederF Vogel
Jun 1, 1992·Nature Genetics·C A StrathdeeM Buchwald
Mar 1, 1991·British Journal of Haematology·B P AlterA D Auerbach
Jan 1, 1990·Radiotherapy and Oncology : Journal of the European Society for Therapeutic Radiology and Oncology·E Gluckman
Apr 20, 1985·Lancet·D SchindlerP S Rabinovitch
Aug 1, 1987·American Journal of Medical Genetics·J RosendorffT Jenkins
May 1, 1983·Cancer Genetics and Cytogenetics·N U PotterF P Li
Jan 1, 1982·Human Genetics·B DutrillauxM Prieur
Aug 1, 1980·British Journal of Haematology·R BergerC Gisselbrecht
Jul 1, 1994·Cancer Genetics and Cytogenetics·J P ReyH Müller
Aug 1, 1993·Cancer Genetics and Cytogenetics·R BergerM C Gendron
Feb 1, 1993·American Journal of Hematology·J C Schultz, N T Shahidi
Apr 1, 1993·British Journal of Haematology·R StarkE Gluckman
Jul 1, 1996·British Journal of Haematology·J D CavenaghA C Newland
Oct 1, 1996·American Journal of Hematology·B P Alter
Nov 1, 1996·Nature Genetics·J R Lo Ten FoeH Joenje
Nov 1, 1996·Nature Genetics·UNKNOWN Fanconi anaemia/Breast cancer consortium
Dec 12, 1997·American Journal of Hematology·J BoultwoodJ S Wainscoat
Dec 17, 1997·Nature Genetics·G M KupferA D D'Andrea
Feb 18, 1998·Bone Marrow Transplantation·J KapelushnikA Nagler
Jun 27, 1998·Journal of Molecular Biology·M EscarcellerD Papadopoulo
Aug 28, 1998·Journal of Molecular Biology·J SmithD Papadopoulo
Nov 7, 1998·Nature Genetics·J P de WinterH Joenje
Jun 11, 1999·Journal of Pediatric Hematology/oncology·M AkerA Nagler
Jun 22, 1999·Molecular and Cellular Biology·I Garcia-HigueraA D D'Andrea
Nov 11, 1999·British Journal of Haematology·F LeteurtreE Gluckman
Dec 30, 1999·Nature Genetics·J P de WinterH Joenje

❮ Previous
Next ❯

Citations

Mar 17, 2005·Chromosoma·U Thomas Meier
Nov 30, 2007·Annales d'endocrinologie·F LamineC Ben Slama
Sep 26, 2006·Oncogene·C G Mathew
Sep 29, 2005·Hematology·Hoon Kook
Jul 17, 2008·Antioxidants & Redox Signaling·Wei DuQishen Pang
May 25, 2007·Stem Cells and Development·Kenneth D McMilin, Susmita Dasgupta
Dec 18, 2007·Nucleic Acids Research·Johannes GrillariRegina Voglauer
Oct 16, 2007·Current Opinion in Hematology·Amy E Geddis, Carlo L Balduini
Feb 27, 2010·Journal of Pediatric Hematology/oncology·John A D'Orazio
Sep 23, 2006·Archives of Disease in Childhood·R M James, S E Kinsey
Jul 3, 2013·Archives of Disease in Childhood·C Geoffrey Woods, Alasdair Parker
Oct 8, 2011·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Smita Bhatia
Oct 6, 2010·The Journal of Clinical Investigation·Patrizia VinciguerraAlan D D'Andrea
Dec 6, 2007·BMC Biochemistry·Céline Jacquemont, Toshiyasu Taniguchi
Sep 13, 2008·BMC Cancer·Marc TischkowitzChristopher G Mathew
Jun 28, 2012·Anemia·Tagrid Kaddar, Madeleine Carreau
Oct 22, 2014·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·H RamaSrishti Gupta
Jul 26, 2012·Familial Cancer·Stephanie SmetsersStefan Meyer
Oct 27, 2010·The British Journal of Dermatology·A KaralisG W M Millington
Dec 18, 2013·Seminars in Oncology·Smita Bhatia
Nov 19, 2013·Pediatric Clinics of North America·S Deborah Chirnomas, Gary M Kupfer
Jan 22, 2013·Mutation Research·Lindsey E Romick-RosendaleSusanne I Wells
Nov 24, 2012·Seminars in Cutaneous Medicine and Surgery·Vasiliki NikolaouHensin Tsao
Mar 24, 2010·Pediatric Clinics of North America·Parinda MehtaFranklin O Smith
Jan 1, 2008·Blood Reviews·Inderjeet Dokal, Tom Vulliamy
Jun 19, 2007·Food and Chemical Toxicology : an International Journal Published for the British Industrial Biological Research Association·A IndartB Bonet
Dec 13, 2006·Seminars in Cancer Biology·Susanne M Gollin
Oct 3, 2009·Annals of the New York Academy of Sciences·Claudia Lengerke, George Q Daley
Feb 1, 2006·British Journal of Haematology·Satoshi HamanoueTakayuki Yamashita
Aug 22, 2006·Paediatric Anaesthesia·Rebecca Jacob, Thiruvenkatarajan Venkatesan
May 8, 2013·Acta Ophthalmologica·Alba Lucia TörnquistKristina Teär Fahnehjelm
May 29, 2013·Acta Ophthalmologica·Akhlaq AhmedPeter B Toft
Dec 9, 2014·Cell Cycle·Rebecca A Boisvert, Niall G Howlett
Oct 3, 2006·Journal of Cataract and Refractive Surgery·Mostafa A ElgoharyRichard P Wormald
Aug 15, 2006·Pathologie-biologie·G MacéF Rosselli
Jan 17, 2007·Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie·Salim Ben YahiaMoncef Khairallah

❮ Previous
Next ❯

Related Concepts

Related Feeds

Acute Myeloid Leukemia

Acute myeloid leukemia (AML) is a clinically and genetically heterogeneous disease with approximately 20,000 cases per year in the United States. AML also accounts for 15-20% of all childhood acute leukemias, while it is responsible for more than half of the leukemic deaths in these patients. Here is the latest research on this disease.

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.

AML: Role of LSD1 by CRISPR (Keystone)

Find the latest rersearrch on the ability of CRISPR-Cas9 mutagenesis to profile the interactions between lysine-specific histone demethylase 1 (LSD1) and chemical inhibitors in the context of acute myeloid leukemia (AML) here.