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{{Colon cancer}}
{{Colon cancer}}
To view the historical perspective of familial adenomatous polyposis (FAP), click [[Familial adenomatous polyposis historical perspective|'''here''']]<br>
To view the historical perspective of hereditary nonpolyposis colorectal cancer (HNPCC), click [[Hereditary nonpolyposis colorectal cancer historical perspective|'''here''']]<br><br>
{{CMG}} {{AE}} Saarah T. Alkhairy, M.D.
{{CMG}} {{AE}} Saarah T. Alkhairy, M.D.


==Overview==
==Overview==
Colorectal cancer can date back to the Ptolemaic period in an Eqyptian mummy. In February 2000, President Clinton officially dedicated March as National Colon Cancer Awareness Month.
Colorectal cancer can be dated back to an Egyptian mummy who had lived in the Dakleh Oasis during the Ptolemaic period (200-400 CE). Dr. Aldred Warthin (an American [[pathologist]]) studied a family in 1895 and published his first report on it in 1913, documenting a pattern of [[endometrial]], [[gastric]], and colon cancers. In 1971, Lynch and Krush updated the studies of the family which eventually became known as [[Hereditary nonpolyposis colorectal cancer|hereditary nonpolyposis colon cancer]] ([[HNPCC]]), also known as [[Lynch Syndrome I|Lynch Syndrome]]. In February 2000, President Bill Clinton pronounced March as National Colon Cancer Awareness Month.


==Colorectal Cancer Historical Perspective==
==Colorectal Cancer Historical Perspective==
*The first historical diagnosis of cancer, in particular colorectal cancer, was by Professor Michael Zimmerman, on an ancient Egyptian mummy who had lived in Dakleh Oasis during the Ptolemaic period (200-400 CE)<ref name="pmid21170260">{{cite journal| author=Rehemtulla A| title=Dinosaurs and ancient civilizations: reflections on the treatment of cancer. | journal=Neoplasia | year= 2010 | volume= 12 | issue= 12 | pages= 957-68 | pmid=21170260 | doi= | pmc=PMC3003131 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21170260  }} </ref>
*The first historical diagnosis of cancer, in particular colorectal cancer, was by Professor Michael Zimmerman on an ancient Egyptian mummy who had lived in the Dakleh Oasis during the Ptolemaic period (200-400 CE).<ref name="pmid21170260">{{cite journal| author=Rehemtulla A| title=Dinosaurs and ancient civilizations: reflections on the treatment of cancer. | journal=Neoplasia | year= 2010 | volume= 12 | issue= 12 | pages= 957-68 | pmid=21170260 | doi= | pmc=PMC3003131 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21170260  }} </ref>
*In Biblical texts, Jehoram of Judah (who ruled in Jerusalem 843-851 B.C.) was cursed because of his evil deeds with an incurable disease of the bowels which left him in great agony and eventually his bowels came out; this waspossibly the earliest description of colorectal carcinoma<ref name="pmid15785440">{{cite journal| author=Liubov Louba BN| title=Colorectal carcinoma that afflicted King Jehoram. | journal=Minerva Med | year= 2004 | volume= 95 | issue= 6 | pages= 557-61 | pmid=15785440 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15785440 }} </ref>
*The first account of a hereditary colorectal disease was by Dr. Aldred Warthin, who first suspected the disorder on a female patient.<ref name="pmid25276405">{{cite journal| author=Schlussel AT, Gagliano RA, Seto-Donlon S, Eggerding F, Donlon T, Berenberg J et al.| title=The evolution of colorectal cancer genetics-Part 1: from discovery to practice. | journal=J Gastrointest Oncol | year= 2014 | volume= 5 | issue= 5 | pages= 326-35 | pmid=25276405 | doi=10.3978/j.issn.2078-6891.2014.069 | pmc=PMC4173047 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25276405 }} </ref>
*In February 2000, President Clinton officially dedicated March as National Colon Cancer Awareness Month
*Dr. Aldred Warthin (an American pathologist) began studying her family in 1895 and published his first report on it in 1913 documenting a pattern of [[endometrial]], [[gastric]], and [[colon]] cancers.<ref name="pmid25276405">{{cite journal| author=Schlussel AT, Gagliano RA, Seto-Donlon S, Eggerding F, Donlon T, Berenberg J et al.| title=The evolution of colorectal cancer genetics-Part 1: from discovery to practice. | journal=J Gastrointest Oncol | year= 2014 | volume= 5 | issue= 5 | pages= 326-35 | pmid=25276405 | doi=10.3978/j.issn.2078-6891.2014.069 | pmc=PMC4173047 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25276405  }} </ref>
 
*In February 2000, President Bill Clinton pronounced March as National Colon Cancer Awareness Month.
<ref name="pmid25276405">{{cite journal| author=Schlussel AT, Gagliano RA, Seto-Donlon S, Eggerding F, Donlon T, Berenberg J et al.| title=The evolution of colorectal cancer genetics-Part 1: from discovery to practice. | journal=J Gastrointest Oncol | year= 2014 | volume= 5 | issue= 5 | pages= 326-35 | pmid=25276405 | doi=10.3978/j.issn.2078-6891.2014.069 | pmc=PMC4173047 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25276405  }} </ref>
 
The sentinel account of a hereditary colorectal family was by Dr. Aldred Warthin, who first suspected the disorder in the family of an affected woman (who subsequently died of endometrial cancer) over 100 years ago. He began studying her family (Family G) in 1895 and published his first report on it in 1913 documenting a pattern of gynecological cancer—specifically endometrial cancer—and gastrointestinal cancers, particularly gastric and colon (2). In 1971, updated studies of Family G by Lynch and Krush showed it to be consonant with what became known as Lynch syndrome (LS) (3). A marked 70-80% percent excess of proximal colon cancers was observed in patients with LS (4). Cutaneous manifestations of the Muir-Torre syndrome, such as sebaceous adenomas and sebaceous carcinomas also were found to be associated with the disorder (5). CRCs are the most frequent cancers associated with LS; endometrial cancers have been identified as the second-leading cancer associated with the syndrome. The MutS, E. Coli, Homolog of, 2 mutation was subsequently identified in Family G in 2000 (6). With current detection and treatment options, it is felt that no one with LS should die of CRC, assuming that the patient at increased risk has been identified, has a knowledgeable physician, and has been referred to a gastroenterologist or surgeon who prescribes frequent (annual) screening colonoscopies initiated at age 25.
 
Knudson’s two hit hypothesis provided the basis of our understanding of how tumor suppressor genes could explain the younger ages of onset in familial cancers as well as variable penetrance. Although susceptibility is increased, a second mutation is required to produce a tumor (7,8). Fearon & Vogelstein showed us that in some cancers, the adenomatous polyposis coli (APC) gene is mutated as the initial step in the carcinogenic pathway (9). Mutations in the adenomatous polyposis coli gene are responsible for the syndrome originally recognized in the 1930’s as autosomal dominant familial severe polyposis, currently known as familial adenomatous polyposis (FAP) (10-12).
 
Once some of the putative genes for colon cancer were identified, the value of a detailed family history became apparent. The expanded histories often led to the characterization of hereditary cancer syndromes and a better understanding of the natural history. For the first time, phenotypes could be predicted from the genotype providing valuable information towards prevention. The locations of mutations in the APC gene were shown to be associated with extracolonic manifestations as well as the severity and age of onset of polyposis (13). Shortly thereafter the extracolonic cancers in LS were confirmed (14-16). Identification of the familial mutation allowed pre-symptomatic genetic testing of family members opening the possibility of prevention and early detection of related cancers. Equally important is the sparing of those who are mutation negative thus reducing the psychological ramifications of the unknown.
 
In 1990 Congress awarded $3 billion to the Human Genome Project (HGP) which was completed with an international consortium in 2003. The hopes of genomic information raised the possibility of unforeseen consequences. For example, the Ethical, Social and Legal Implications (ELSI) committee was established to deal with the non-technical impact of this knowledge. A new branch of the National Institutes of Health, the National Human Genome Research Institute (NHGRI) is the result of the HGP and dedicates 5% of the budget towards ELSI which continues to guide us through this exciting social transformation.
 
Technological advances provided a boost towards new genetic discoveries launching the arena for high throughput analysis. Large amounts of data are now available in a short amount of time with small amounts of DNA. Our understanding of CRC continues to grow, and it is now estimated that up to 10% of the population has a known hereditary CRC syndrome. More importantly, there are 20-30% of CRC cases with evidence of a familial component, but without an identified hereditary gene mutation (1,17,18). Genetics has increased our understanding of the somatic events of tumorigenesis. The molecular pathology of the tumor describes two pathways to carcinogenesis mismatch repair and serrated polyposis (19,20). More recently, we have come to appreciate how cancer can be caused by the epigenetic modification of cancer genes, both heritable and acquired.
 


==References==
==References==
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Latest revision as of 18:30, 10 January 2019

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To view the historical perspective of familial adenomatous polyposis (FAP), click here
To view the historical perspective of hereditary nonpolyposis colorectal cancer (HNPCC), click here

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

Overview

Colorectal cancer can be dated back to an Egyptian mummy who had lived in the Dakleh Oasis during the Ptolemaic period (200-400 CE). Dr. Aldred Warthin (an American pathologist) studied a family in 1895 and published his first report on it in 1913, documenting a pattern of endometrial, gastric, and colon cancers. In 1971, Lynch and Krush updated the studies of the family which eventually became known as hereditary nonpolyposis colon cancer (HNPCC), also known as Lynch Syndrome. In February 2000, President Bill Clinton pronounced March as National Colon Cancer Awareness Month.

Colorectal Cancer Historical Perspective

  • The first historical diagnosis of cancer, in particular colorectal cancer, was by Professor Michael Zimmerman on an ancient Egyptian mummy who had lived in the Dakleh Oasis during the Ptolemaic period (200-400 CE).[1]
  • The first account of a hereditary colorectal disease was by Dr. Aldred Warthin, who first suspected the disorder on a female patient.[2]
  • Dr. Aldred Warthin (an American pathologist) began studying her family in 1895 and published his first report on it in 1913 documenting a pattern of endometrial, gastric, and colon cancers.[2]
  • In February 2000, President Bill Clinton pronounced March as National Colon Cancer Awareness Month.

References

  1. ↑ Rehemtulla A (2010). "Dinosaurs and ancient civilizations: reflections on the treatment of cancer". Neoplasia. 12 (12): 957–68. PMC 3003131. PMID 21170260.
  2. ↑ 2.0 2.1 Schlussel AT, Gagliano RA, Seto-Donlon S, Eggerding F, Donlon T, Berenberg J; et al. (2014). "The evolution of colorectal cancer genetics-Part 1: from discovery to practice". J Gastrointest Oncol. 5 (5): 326–35. doi:10.3978/j.issn.2078-6891.2014.069. PMC 4173047. PMID 25276405.


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