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==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 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]].
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==
==History and Symptoms==
*Obtaining the history is an important aspect of making a diagnosis of hereditary nonpolyposis colorectal cancer. It provides insight into natural evolution of the disease. Complete history will help determine the  association with other conditions. Specific symptoms description such as duration, onset, and progression are important for making the diagnosis. Specific areas of focus when obtaining the 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>
:*Positive history of hereditary nonpolyposis colorectal cancer in a first degree family member
:*At least two successive generations affected by hereditary nonpolyposis colorectal cancer (histologially confirmed)
:*History of colorectal carcinoma and/or endometrial carcinoma or transitional cell carcinoma of the ureter


==Symptoms==
=== History ===
*Hereditary nonpolyposis colorectal cancer often causes no symptoms until it has reached a relatively advanced stage. 
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>
*When symptoms do occur, they depend on the site of the lesion.
:*Positive history of hereditary nonpolyposis colorectal cancer in a first degree [[family]] member
:*At least two successive generations affected by hereditary nonpolyposis colorectal cancer ([[Histology|histologically]] confirmed)
:*History of [[Colorectal cancer|colorectal carcinoma]] and/or [[Endometrial cancer|endometrial carcinoma]] or [[transitional cell carcinoma]] of the [[ureter]]
 
===Common Symptoms===
*Common symptoms include:
*Common symptoms include:
** Change in bowel habits:
** Change in bowel habits:
:** Change in frequency ([[constipation]] and/or [[diarrhea]])
*** Change in frequency ([[constipation]] and/or [[diarrhea]])
:** Change in the quality of stools
*** Change in the quality of [[Human feces|stool]]
:** Change in consistency of stools
*** Change in consistency of [[Human feces|stool]]
** [[Hematochezia]] or bleeding per rectum
** [[Hematochezia]] or [[bleeding]] per [[rectum]]
** [[Mucus]] in stools
** [[Mucus]] in [[Human feces|stool]]
** Abdominal cramps or discomfort  
** [[Abdomen|Abdominal]] [[Cramp|cramps]] or [[discomfort]]
** [[Melena]] (usually associated with upper gastrointestinal disease)
** [[Melena]] (usually associated with upper [[Gastrointestinal tract|gastrointestinal]] [[disease]])
** [[Tenesmus]] (usually associated with rectal cancer)
** [[Tenesmus]] (usually associated with [[Rectum|rectal]] [[cancer]])
** Diminished caliber of stools (usually associated with rectal cancer)
** Diminished caliber of [[Human feces|stool]] (usually associated with [[Rectum|rectal]] [[cancer]])
** Rectal pain (usually associated with rectal cancer)
** [[Rectum|Rectal]] [[pain]] (usually associated with [[Rectum|rectal]] [[cancer]])
** Nausea/vomiting
** [[Nausea and vomiting|Nausea/vomiting]]
** Unexplained [[weight loss]]
** Unexplained [[weight loss]]
** Unexplained loss of appetite
** Unexplained [[Anorexia|loss of appetite]]
** Weakness
** [[Fatigue|Weakness]]
** [[Fatigue]]
** [[Fatigue]]
** [[Metrorrhagia]] in premenopausal women  
** [[Metrorrhagia]] in [[Menopause|premenopausal]] women  
** 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>
** [[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>
** Postcoital bleeding
** [[Coitus|Postcoital]] [[bleeding]]


==References==
==References==

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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