Familial Cancer

, Volume 12, Issue 2, pp 279–284 | Cite as

Surveillance for urinary tract cancer in Lynch syndrome

  • Inge Thomsen Bernstein
  • Torben Myrhøj
Original Article


Hereditary non-polyposis colorectal cancer (HNPCC) is an inherited multiorgan cancer syndrome, which when caused by a germline mutation in the mismatch repair (MMR) genes is known as Lynch syndrome (LS). Mutation carriers are at risk for developing cancers primarily in the colon, rectum and endometrium, but also other extra-colonic cancers. Urinary tract cancers (UTC) have in many studies been reported increased in LS and it has been discussed among researchers and clinicians whether or not screening for urological tumours should be included in the surveillance programme and if so what screening procedures are justifiable. The aim of this review was to elucidate the present knowledge from the literature on the risk of UTC in LS and highlight the pros and cons of screening for asymptomatic neoplasia in the urinary tract. The review is based on a systematic literature search in PubMed database followed by a reference list of retrieved articles and manual searches of further relevant articles. In conclusion there is a moderate increased risk of UTC in LS, but a tremendous lack of knowledge on which screening programme, if any at all to establish, and if so what procedures and time intervals are appropriate. It is recommended that all eventually screening for UTC in LS, only should be performed in clinical trials or with a systematic reporting to a HNPCC-register for future evaluation.


HNPCC Lynch syndrome Urinary tract cancer Screening 



Colorectal cancer




Hereditary non-polyposis colorectal cancer


Lynch syndrome


Mismatch repair genes, MLH1, MSH2, MSH6, PMS1 and PMS2


Microsatellite instability


Urine cytology




Urinary tract cancer


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Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  1. 1.The Danish HNPCC-register, Department of Gastroenterology and Clinical Research CenterCopenhagen University HospitalHvidovreDenmark
  2. 2.Department of Surgical GastroenterologyAalborg University HospitalAalborgDenmark

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