Management of extracolonic tumours in patients with Lynch syndrome

Koornstra, Jan J.; Mourits, Marian J.E.; Sijmons, Rolf H.; Leliveld, Annemarie; Hollema, Harry; Kleibeuker, Jan H.

doi:10.1016/s1470-2045(09)70041-5

Cited by 185 publications

(133 citation statements)

References 82 publications

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“…26 Patients at risk have an approximately 22-fold increased relative risk of developing UTUC. 27 The lifetime risk for urological cancer has been estimated to be approximately 8% by age 70 years, 26 and that is why some guidelines and experts recommend that all UTUC patients should be screened for HNPCC spectrum disease though a short interview, and should undergo DNA sequencing if they fulfill all criteria for HNPCC. 28 If DNA sequencing confirms the diagnosis of HNPCC syndrome, patients should undergo a clinical evaluation for other HNPCC-related cancers, a close follow up and familial genetic counseling.…”

Section: Genetic Effectsmentioning

confidence: 99%

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Epidemiology of urothelial carcinoma

2017

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The epithelium lining is defined as the mucosal surfaces of the renal collecting tubules, calyces and pelvis, as well as the ureter, bladder and urethra. The term "urothelium" is used to refer to these surfaces. Upper tract urothelial carcinoma is a rare subset of urothelial cancers with a poor prognosis. Urinary bladder cancer is the most common malignancy involving the urinary system. Upper tract urothelial carcinoma is more common in men than in women, with a male-to-female ratio of 2:1. The incidence of urinary bladder cancer is also higher in men. Cigarette smoking and occupational exposure are the main upper tract urothelial carcinoma and urinary bladder cancer risk factors, while other factors are more specific to the carcinogenesis of upper tract urothelial carcinoma (i.e. Balkan endemic nephropathy, Chinese herb nephropathy). In Egypt until recent years, urinary bladder cancer was the most frequently diagnosed cancer due to Schistosoma haematobium. Substantial knowledge exists regarding the causes of upper tract urothelial carcinoma and urinary bladder cancer, and epidemiological studies have identified various chemical carcinogens that are believed to be responsible for most cases of urothelial carcinoma. In the era of precision medicine, genetic effects might play a direct role in the initiation and progression of urothelial carcinoma.

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Section: Genetic Effectsmentioning

confidence: 99%

“…28 If DNA sequencing confirms the diagnosis of HNPCC syndrome, patients should undergo a clinical evaluation for other HNPCC-related cancers, a close follow up and familial genetic counseling. 27 …”

Section: Genetic Effectsmentioning

confidence: 99%

Epidemiology of urothelial carcinoma

2017

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“…3 Both men and women carrying mutations in the MMR genes have up to a 69% lifetime risk of developing colorectal cancer, with women facing the additional lifetime risk of up to 71% of developing endometrial cancer. 4,5 Women carrying the MMR gene mutations also have a 19-fold greater risk of developing ovarian cancer as well as a 4-fold increased risk of developing breast cancer compared to the general population. 6 The risk of endometrial cancer subsequent to colorectal cancer is also increased.…”

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confidence: 99%

Improving identification of lynch syndrome patients: A comparison of research data with clinical records

Tan

McGaughran

Ferguson

et al. 2013

Intl Journal of Cancer

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Current evidence suggests poor identification and referral of Lynch syndrome patients. This study evaluated the strategies by which patients with endometrial cancer were referred to genetics services. Data from clinic-based patients with endometrial cancer enrolled through the Australian National Endometrial Cancer population-based research study with detailed family history information were analyzed. The Amsterdam II criteria, the revised Bethesda guidelines, and criteria adapted for this study was assessed using personal/family history information. The percentages of patients referred and who could have been referred to genetics services, and the performance of each criterion for identifying possible mismatch-repair (MMR) gene mutation carriers, based on tumor MMR immunohistochemistry (IHC), were determined. Research data indicated that 236/397(59%) of patients with endometrial cancer had family/personal history of cancer, including 14 (4%) who fulfilled Amsterdam II criteria. Family history information was noted in the hospital records for only 61(15%) patients, including 7/14 (50%) of patients meeting Amsterdam criteria, and always less extensively than that recorded in the research setting. Only 13 patients (two meeting Amsterdam criteria) were referred for genetic assessment. Of 58 patients with tumor MMR protein-IHC loss, the Amsterdam criteria and Bethesda guidelines identified only three and 34% of these possible germline mutation carriers, respectively. Greater sensitivity (60%) was obtained using a single criterion proposed by our study, 2 first-degree or second-degree relatives reporting Lynch cancers. Hospital records indicate poor recognition of family history. Application of research methods show improved identification and may facilitate appropriate referrals of endometrial cancer patients with possible Lynch syndrome.

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“…Colon cancer incidence is described as similar for both MLH1 and MSH2 mutation carriers (84% and 71%). MSH2-mutation carriers show a higher incidence (48-61%) of extra colonic malignancies (gastric, pancreatic, small bowel, rectal, urological and ovarian cancer) when compared to MLHmutation carriers (11-42%) [13]. MLH1 and MSH2 mutation carriers have an overall higher cancer risk (44-79% and 38-78%) when compared with MSH6 and PMS2 mutation carriers; and the highest cumulative risk for CC at age 70 (50-65% and 40-65%, respectively), with a mean age of onset of 43-46 years old [14].…”

Section: Discussionmentioning

confidence: 99%