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| ==Causes== | | ==Causes== |
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| ==Differentiating type page name here from other Diseases== | | ==[[Hereditary and familial colorectal cancer Diagnosis|Diagnosis]]== |
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| == Epidemiology and Demographics == | | ==[[Hereditary and familial colorectal cancer Treatment|Treatment]]== |
| ===Age===
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| ===Gender===
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| ===Race===
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| ===Developed Countries===
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| ===Developing Countries===
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| == Risk Factors ==
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| == Screening ==
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| == Natural History, Complications and Prognosis==
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| == Diagnosis ==
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| * Lynch syndrome
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| Family history, tumor testing, mutation prediction models, and genetic testing.
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| : - Family history: The Amsterdam criteria, The revised Bethesda guidelines
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| : - Tumor testing: four antibodies specific for hMLH1, hMSH2, hMSH6 and hPMS2 proteins to evaluate tumors for MMR deficiency. Others include BRAF mutation and hMLH1 promoter methylation analyses <ref name="pmid16885385">{{cite journal |author=Hampel H, Frankel W, Panescu J, ''et al.'' |title=Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients |journal=Cancer Res. |volume=66 |issue=15 |pages=7810–7 |year=2006 |month=August |pmid=16885385 |doi=10.1158/0008-5472.CAN-06-1114 |url=}}</ref>.
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| : - Commercial tests: analyze the distal portion of EpCAM and the 4 clinically relevant MMR genes.
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| : - Genetic testing: mutations in hMLH1 and hMSH2
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| : - Models for diagnosis: PREMM(1,2), MMRpro, and MMRpredict <ref name="pmid19515405">{{cite journal |author=Backes FJ, Leon ME, Ivanov I, ''et al.'' |title=Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancer |journal=Gynecol. Oncol. |volume=114 |issue=3 |pages=486–90 |year=2009 |month=September |pmid=19515405 |doi=10.1016/j.ygyno.2009.05.026 |url=}}</ref> using family and personal history.
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| * Familial adenomatous polyposis (FAP): FAP and attenuated FAP
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| : FAP: The diagnosis is made with the identification of at least 100 colonic adenomas; however, younger individuals with fewer polyps might also have FAP.
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| Extra-colonic lesions also contribute to the presumptive diagnosis.
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| APC mutations confirm the diagnosis.
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| : Attenuated FAP: Suspected when 10 or more, but fewer than 100 adenomas, are found in a person over 40 or 50 years of age <ref name="pmid15300576">{{cite journal |author=Burt RW, Leppert MF, Slattery ML, ''et al.'' |title=Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis |journal=Gastroenterology |volume=127 |issue=2 |pages=444–51 |year=2004 |month=August |pmid=15300576 |doi= |url=}}</ref>. Can mimic FAP, MAP, or sporadic polyp.
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| Genetic testing is useful.
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| * MUTYH-associated polyposis
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| Clinical diagnostic criteria have not yet been fully established.
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| Colonic phenotype may be considered similar to attenuated FAP.
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| Genetic testing targets the specific ethnic allelic frequencies of MUTYH variants.
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| Genetic testing is warranted in individuals with greater than 10 colorectal adenomas but without an identifiable mutation in APC.
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| * Hamartomatous polyposis conditions:
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| : Peutz-Jeghers syndrome (PJS) A clinical diagnosis of PJS can be made when an individual has 2 or more of the following features: 2 or more Peutz-Jeghers polyps of the small intestine; typical mucocutaneous hyperpigmentation; and a family history of PJS.
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| : Juvenile polyposis syndrome (JPS) Does not typically have obvious physical findings that facilitate diagnosis.A diagnosis is considered for anyone who has at least 3 juvenile polyps of the colon, multiple juvenile polyps throughout the GI tract, or any number of juvenile polyps and a family history of the condition.
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| * Hyperplastic polyposis (HPP)
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| : Requires 20 - 30 cumulative hyperplastic polyps of any size distributed throughout the colon ; 5 or more hyperplastic polyps proximal to the sigmoid colon with at least 2 being greater than 10 mm in diameter; or at least 1 hyperplastic colonic polyp in an individual with a first-degree relative with HPP. Sessile serrated polyps also included.
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| ==References==
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| {{Reflist|2}}
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| {{WH}}
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| {{WS}}
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| == Treatment ==
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| === Pharmacotherapy ===
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| ==== Acute Pharmacotherapies ====
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| ==== Chronic Pharmacotherapies ====
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| === Surgery and Device Based Therapy ===
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| ==== Indications for Surgery ====
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| ==== Pre-Operative Assessment ====
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| ==== Post-Operative Management ====
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| ==== Transplantation ====
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| === Primary Prevention ===
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| === Secondary Prevention ===
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| === Cost-Effectiveness of Therapy ===
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| === Future or Investigational Therapies ===
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| ==References== | | ==References== |