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{{Hereditary nonpolyposis colorectal cancer}}
{{Hereditary nonpolyposis colorectal cancer}}
{{CMG}}{{AE}}{{MV}}
{{CMG}}{{AE}}{{MV}}{{Akram}}
==Overview==
==Overview==
The hallmark of hereditary nonpolyposis colorectal cancer is a first-degree relative with known MMR/EPCAM gene mutation. A positive family history of colorectal cancer and meeting Amsterdam I or II criteria or revised Bethesda guidelines is highly suggestive of HNPCC. Some symptoms that are associated with colorectal cancer are change in bowel habits, hematochezia, and rectal pain.<ref name="lynch">Kladny J, Lubinski J. Lynch syndrome (HNPCC). Hered Cancer Clin Pract. 2008;6(2):99-102.</ref>
The hallmark of hereditary nonpolyposis colorectal cancer is a first-degree relative with known MMR/EPCAM [[gene]] [[mutation]]. A positive [[family history]] of [[colorectal cancer]] and meeting [[Amsterdam criteria|Amsterdam I or II criteria]] or revised Bethesda guidelines is highly suggestive of hereditary nonpolyposis colorectal cancer. Some [[symptoms]] that are associated with [[colorectal cancer]] are change in [[bowel]] habits, [[hematochezia]], and [[rectal pain]].


==History and symptoms==
==History and Symptoms==
Colon cancer often causes no symptoms until it has reached a relatively advanced stage.  When symptoms do occur, they depend on the site of the lesion. Generally speaking, the nearer the lesion is to the anus, the more bowel symptoms there will be, such as:
* Change in bowel habits
:* Change in frequency ([[constipation]] and/or [[diarrhea]])
:* Change in the quality of stools
:* Change in consistency of stools
* [[Hematochezia]] or bleeding per rectum
* [[Mucus]] in stools
* Abdominal cramps or discomfort
* [[Melena]] (usually associated with upper gastrointestinal disease)
* [[Tenesmus]] (usually associated with rectal cancer)
* Diminished caliber of stools (usually associated with rectal cancer)
* Rectal pain (usually associated with rectal cancer)
===Family history===
*First degree family member
*At least two successive generations affected by HNPCC (histologially confirmed)
*History of colorectal carcinoma and/or endometrial carcinoma or transitional cell carcinoma of the ureter <ref>Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116(6):1453-6.</ref>


===Constitutional symptoms===
=== History ===
* Nausea/vomiting
Specific areas of focus when obtaining history, are outlined below:<ref>Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116(6):1453-6.</ref>
* Unexplained [[weight loss]]
:*Positive history of hereditary nonpolyposis colorectal cancer in a first degree [[family]] member
* Unexplained loss of appetite
:*At least two successive generations affected by hereditary nonpolyposis colorectal cancer ([[Histology|histologically]] confirmed)
* Weakness
:*History of [[Colorectal cancer|colorectal carcinoma]] and/or [[Endometrial cancer|endometrial carcinoma]] or [[transitional cell carcinoma]] of the [[ureter]]
* [[Fatigue]]
* [[Dizziness]]
* [[Palpitations]]


===Metastatic symptoms===
===Common Symptoms===
* There may be symptoms attributed to distant [[metastasis]]:
*Common symptoms include:
* Endometrial (most common):
** Change in bowel habits:
:* Abnormal [[vaginal bleeding]], abnormal menstrual periods
*** Change in frequency ([[constipation]] and/or [[diarrhea]])
:* [[Metrorrhagia]] in premenopausal women  
*** Change in the quality of [[Human feces|stool]]
:* Postmenopausal [[vaginal bleeding]] <ref name="pmid22513918">{{cite journal| author=Kong A, Johnson N, Kitchener HC, Lawrie TA| title=Adjuvant radiotherapy for stage I endometrial cancer. | journal=Cochrane Database Syst Rev | year= 2012 | volume= 4 | issue=  | pages= CD003916 | pmid=22513918 | doi=10.1002/14651858.CD003916.pub4 | pmc=PMC4164955 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22513918  }} </ref>
*** Change in consistency of [[Human feces|stool]]
:* Postcoital bleeding
** [[Hematochezia]] or [[bleeding]] per [[rectum]]
** [[Mucus]] in [[Human feces|stool]]
** [[Abdomen|Abdominal]] [[Cramp|cramps]] or [[discomfort]]
** [[Melena]] (usually associated with upper [[Gastrointestinal tract|gastrointestinal]] [[disease]])
** [[Tenesmus]] (usually associated with [[Rectum|rectal]] [[cancer]])
** Diminished caliber of [[Human feces|stool]] (usually associated with [[Rectum|rectal]] [[cancer]])
** [[Rectum|Rectal]] [[pain]] (usually associated with [[Rectum|rectal]] [[cancer]])
** [[Nausea and vomiting|Nausea/vomiting]]
** Unexplained [[weight loss]]
** Unexplained [[Anorexia|loss of appetite]]
** [[Fatigue|Weakness]]
** [[Fatigue]]
** [[Metrorrhagia]] in [[Menopause|premenopausal]] women  
** [[Menopause|Postmenopausal]] [[vaginal bleeding]] <ref name="pmid22513918">{{cite journal| author=Kong A, Johnson N, Kitchener HC, Lawrie TA| title=Adjuvant radiotherapy for stage I endometrial cancer. | journal=Cochrane Database Syst Rev | year= 2012 | volume= 4 | issue=  | pages= CD003916 | pmid=22513918 | doi=10.1002/14651858.CD003916.pub4 | pmc=PMC4164955 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22513918  }} </ref>
** [[Coitus|Postcoital]] [[bleeding]]


==References==
==References==
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Latest revision as of 21:07, 29 April 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2]Ali Akram, M.B.B.S.[3]

Overview

The hallmark of hereditary nonpolyposis colorectal cancer is a first-degree relative with known MMR/EPCAM gene mutation. A positive family history of colorectal cancer and meeting Amsterdam I or II criteria or revised Bethesda guidelines is highly suggestive of hereditary nonpolyposis colorectal cancer. Some symptoms that are associated with colorectal cancer are change in bowel habits, hematochezia, and rectal pain.

History and Symptoms

History

Specific areas of focus when obtaining history, are outlined below:[1]

Common Symptoms

References

  1. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116(6):1453-6.
  2. Kong A, Johnson N, Kitchener HC, Lawrie TA (2012). "Adjuvant radiotherapy for stage I endometrial cancer". Cochrane Database Syst Rev. 4: CD003916. doi:10.1002/14651858.CD003916.pub4. PMC 4164955. PMID 22513918.


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