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===Discovery===
===Discovery===
* In '''1927,''' Guido Fanconi, a Swiss pediatrician published his observations ‘Familiäre, infantile, perniziosaartige Anämie’{Familial, infantile, pernicious anemia}.<ref name="pmid30882047">{{cite journal| author=Niraj J, Färkkilä A, D'Andrea AD| title=The Fanconi Anemia Pathway in Cancer. | journal=Annu Rev Cancer Biol | year= 2019 | volume= 3 | issue=  | pages= 457-478 | pmid=30882047 | doi=10.1146/annurev-cancerbio-030617-050422 | pmc=6417835 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30882047  }} </ref>
* In '''1927,''' Guido Fanconi, a Swiss pediatrician published his observations ‘Familiäre, infantile, perniziosaartige Anämie’{Familial, infantile, pernicious anemia}.<ref name="pmid30882047">{{cite journal| author=Niraj J, Färkkilä A, D'Andrea AD| title=The Fanconi Anemia Pathway in Cancer. | journal=Annu Rev Cancer Biol | year= 2019 | volume= 3 | issue=  | pages= 457-478 | pmid=30882047 | doi=10.1146/annurev-cancerbio-030617-050422 | pmc=6417835 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30882047 }} </ref> This was the first clinical report of Fanconi anemia.<ref name="pmid29399332">{{cite journal| author=Bagby G| title=Recent advances in understanding hematopoiesis in Fanconi Anemia. | journal=F1000Res | year= 2018 | volume= 7 | issue=  | pages= 105 | pmid=29399332 | doi=10.12688/f1000research.13213.1 | pmc=5785713 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29399332 }} </ref>
* In '''1931,''' Erwin Uehlinger, a German Pathologist, published article showing that findings of Guido Fanconi are different from pernicious anemia this type of constitutional anaemia was often associated with pancytopenia and that congenital malformations.<ref name="pmid7024952">{{cite journal| author=Adler CP| title=[In Memoriam: Erwin Uehlinger (8. August 1899 - 18. April 1980)]. | journal=Pathol Res Pract | year= 1981 | volume= 171 | issue= 3-4 | pages= 281-4 | pmid=7024952 | doi=10.1016/S0344-0338(81)80100-8 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7024952  }}</ref>
* In '''1931,''' Erwin Uehlinger, a German Pathologist, published article showing that findings of Guido Fanconi are different from pernicious anemia this type of constitutional anaemia was often associated with pancytopenia and that congenital malformations.<ref name="pmid7024952">{{cite journal| author=Adler CP| title=[In Memoriam: Erwin Uehlinger (8. August 1899 - 18. April 1980)]. | journal=Pathol Res Pract | year= 1981 | volume= 171 | issue= 3-4 | pages= 281-4 | pmid=7024952 | doi=10.1016/S0344-0338(81)80100-8 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7024952  }}</ref>
*In '''1937,''' Guido Fanconi described the renal fanconi syndrome based on observation of de Toni and Debre, characterized by growth retardation, aminoaciduria, glycosuria and hypophosphataemic rickets. <ref name="pmid26182478">{{cite journal| author=Fanconi A| title=Guido Fanconi, MD, 1892 - 1979 Swiss Pediatrician Life and Performance. | journal=Pediatr Endocrinol Rev | year= 2015 | volume= 12 | issue= 4 | pages= 343-6 | pmid=26182478 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26182478  }}</ref>
*In '''1937,''' Guido Fanconi described the renal fanconi syndrome based on observation of de Toni and Debre, characterized by growth retardation, aminoaciduria, glycosuria and hypophosphataemic rickets. <ref name="pmid26182478">{{cite journal| author=Fanconi A| title=Guido Fanconi, MD, 1892 - 1979 Swiss Pediatrician Life and Performance. | journal=Pediatr Endocrinol Rev | year= 2015 | volume= 12 | issue= 4 | pages= 343-6 | pmid=26182478 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26182478  }}</ref>
*In '''1967,''' Guido Fanconi described Fanconi anemia (FA) findings as separate entity than pernicious anemia.<ref name="pmid15345865">{{cite journal| author=Akkari Y, Olson S| title=Fanconi Anemia: A Decade of Discoveries. | journal=J Assoc Genet Technol | year= 2004 | volume= 30 | issue= 2 | pages= 48-53 | pmid=15345865 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15345865  }}</ref>
*In '''1967,''' Guido Fanconi described Fanconi anemia (FA) findings as separate entity than pernicious anemia.<ref name="pmid15345865">{{cite journal| author=Akkari Y, Olson S| title=Fanconi Anemia: A Decade of Discoveries. | journal=J Assoc Genet Technol | year= 2004 | volume= 30 | issue= 2 | pages= 48-53 | pmid=15345865 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15345865  }}</ref>
*In 1931, Otto Naegeli, a Swiss hematologist introduced the name ‘Fanconi's Anaemia'<ref name="pmid18587688">{{cite journal| author=Scheidegger D| title=Otto Naegeli Prize awarded to Pierre-Alain Clavien. | journal=Swiss Med Wkly | year= 2008 | volume= 138 | issue= 25-26 | pages= 359-60 | pmid=18587688 | doi=2008/25/smw-12354 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18587688  }}</ref>
*In '''1931''', Otto Naegeli, a Swiss hematologist introduced the name ‘Fanconi's Anaemia'<ref name="pmid18587688">{{cite journal| author=Scheidegger D| title=Otto Naegeli Prize awarded to Pierre-Alain Clavien. | journal=Swiss Med Wkly | year= 2008 | volume= 138 | issue= 25-26 | pages= 359-60 | pmid=18587688 | doi=2008/25/smw-12354 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18587688 }}</ref>
*In '''1975''', S.A. Latt and colleagues showed that chromosome breaks and rearrangements in Fanconi anemia may be due to defective DNA repair.<ref name="pmid29399332">{{cite journal| author=Bagby G| title=Recent advances in understanding hematopoiesis in Fanconi Anemia. | journal=F1000Res | year= 2018 | volume= 7 | issue=  | pages= 105 | pmid=29399332 | doi=10.12688/f1000research.13213.1 | pmc=5785713 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29399332  }} </ref>
*In '''1992''', the ''FANCC'' gene was first cloned.<ref name="pmid29399332">{{cite journal| author=Bagby G| title=Recent advances in understanding hematopoiesis in Fanconi Anemia. | journal=F1000Res | year= 2018 | volume= 7 | issue=  | pages= 105 | pmid=29399332 | doi=10.12688/f1000research.13213.1 | pmc=5785713 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29399332 }} </ref>
*In '''2013,''', it was found that Fanconi anemia genes were altered in 40% of cancers based on The Cancer Genome Atlas (TCGA) data.
*In '''2013,''', it was found that Fanconi anemia genes were altered in 40% of cancers based on The Cancer Genome Atlas (TCGA) data.


Revision as of 15:13, 21 April 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

The discovery of fanconi anemia is largely the work of Swiss pediatrician Guido Fanconi who observed various finding of fanconi anemia to be different then pernicious anemia and led to its discovery.

Historical Perspective

Following Are landmark events of discovery of fanconi anemia.

Discovery

  • In 1927, Guido Fanconi, a Swiss pediatrician published his observations ‘Familiäre, infantile, perniziosaartige Anämie’{Familial, infantile, pernicious anemia}.[1] This was the first clinical report of Fanconi anemia.[2]
  • In 1931, Erwin Uehlinger, a German Pathologist, published article showing that findings of Guido Fanconi are different from pernicious anemia this type of constitutional anaemia was often associated with pancytopenia and that congenital malformations.[3]
  • In 1937, Guido Fanconi described the renal fanconi syndrome based on observation of de Toni and Debre, characterized by growth retardation, aminoaciduria, glycosuria and hypophosphataemic rickets. [4]
  • In 1967, Guido Fanconi described Fanconi anemia (FA) findings as separate entity than pernicious anemia.[5]
  • In 1931, Otto Naegeli, a Swiss hematologist introduced the name ‘Fanconi's Anaemia'[6]
  • In 1975, S.A. Latt and colleagues showed that chromosome breaks and rearrangements in Fanconi anemia may be due to defective DNA repair.[2]
  • In 1992, the FANCC gene was first cloned.[2]
  • In 2013,, it was found that Fanconi anemia genes were altered in 40% of cancers based on The Cancer Genome Atlas (TCGA) data.

References

  1. ↑ Niraj J, Färkkilä A, D'Andrea AD (2019). "The Fanconi Anemia Pathway in Cancer". Annu Rev Cancer Biol. 3: 457–478. doi:10.1146/annurev-cancerbio-030617-050422. PMC 6417835. PMID 30882047.
  2. ↑ 2.0 2.1 2.2 Bagby G (2018). "Recent advances in understanding hematopoiesis in Fanconi Anemia". F1000Res. 7: 105. doi:10.12688/f1000research.13213.1. PMC 5785713. PMID 29399332.
  3. ↑ Adler CP (1981). "[In Memoriam: Erwin Uehlinger (8. August 1899 - 18. April 1980)]". Pathol Res Pract. 171 (3–4): 281–4. doi:10.1016/S0344-0338(81)80100-8. PMID 7024952.
  4. ↑ Fanconi A (2015). "Guido Fanconi, MD, 1892 - 1979 Swiss Pediatrician Life and Performance". Pediatr Endocrinol Rev. 12 (4): 343–6. PMID 26182478.
  5. ↑ Akkari Y, Olson S (2004). "Fanconi Anemia: A Decade of Discoveries". J Assoc Genet Technol. 30 (2): 48–53. PMID 15345865.
  6. ↑ Scheidegger D (2008). "Otto Naegeli Prize awarded to Pierre-Alain Clavien". Swiss Med Wkly. 138 (25–26): 359–60. doi:2008/25/smw-12354 Check |doi= value (help). PMID 18587688.

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