The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis

Mallinson, E K L; Newton, Katherine; Bowen, John C.; Lalloo, Fiona; Clancy, Tara; Hill, James A.; Evans, D. Gareth

doi:10.1136/gut.2010.212449

Cited by 55 publications

(55 citation statements)

References 17 publications

(32 reference statements)

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“…It has been suggested that there is a need for a genetic register which would facilitate disease screening, thus leading to earlier diagnosis and follow-up and ultimately improved patient survival [15]. More recently, improved survival of patients with hereditary cancers has been demonstrated in association with the establishment of such a genetic register, emphasizing the need for this type of registries [8].…”

Section: Discussionmentioning

confidence: 99%

Nevoid Basal Cell Carcinoma Syndrome: Report from the Zurich Nevoid Basal Cell Carcinoma Syndrome Cohort

et al. 2016

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Background: Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz syndrome) presents various symptoms and can disfigure patients. The estimated prevalence is around 1:100,000. Objective: To systematically investigate the clinical manifestations of NBCCS patients of the Zurich register and compare them with those described in 4 epidemiological studies performed in other countries. Methods: We analyzed patient characteristics and clinical manifestations in a register of 30 NBCCS patients in Zurich, Switzerland. We compared our findings to the results of 4 epidemiological studies performed in America, Australia, Japan and the UK. Results: We obtained information concerning basal cell carcinomas (BCCs) and jaw cysts from 28 patients out of our population of 30 NBCCS patients. The mean age at onset of the first BCC was 24 years, and the mean age at diagnosis of the first jaw cyst was 15.6 years. The average number of jaw cysts was 8.4; the average number of BCCs was 207. 72.5% of the examined BCCs showed a nodular histology, but we also found scirrhous and superficial types. Conclusion: The disease burden associated with NBCCS diagnosed in Swiss patients is significant and comparable to that of other countries. Regular skin examination and oromaxillary examinations should be performed early in diagnosis, and patients should undergo early UV protection. Nodular BCC is the most common BCC subtype in this patient population.

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Section: Discussionmentioning

confidence: 99%

Nevoid Basal Cell Carcinoma Syndrome: Report from the Zurich Nevoid Basal Cell Carcinoma Syndrome Cohort

et al. 2016

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“…However, a recent study by Evans et al 10 found the reduction in life expectancy to be lower at only 8 years. FAP now has a similar life expectancy to NF1 (estimated 70.4 years)11 and is one of a group of inherited polyposis syndromes which predispose to colorectal cancer. If unscreened, >90% of FAP patients will develop colorectal cancer, which is therefore the main recorded cause of death 12.…”

Section: Introductionmentioning

confidence: 99%

Life expectancy in hereditary cancer predisposing diseases: an observational study

Wilding

Ingham²,

Lalloo³

et al. 2012

J Med Genet

135

108

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“…5,6 However, many young FAP patients still present with cancer. Those with de novo mutations or inherited germline mosaicism may not be identified by FAP registries 7,8 ; others are lost to follow-up and miss screenings and prophylactic surgical care.…”

Section: Familial Adenomatous Polyposismentioning

confidence: 99%

We Don't Know What We Don't Know About Adolescent and Young Adult Patients with Familial Adenomatous Polyposis-Related Colorectal Cancer

Grubman

Barzi

2015

Journal of Adolescent and Young Adult Oncology

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The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis

Abstract: A regular systematic large bowel screening programme, managed by a Polyposis Registry, significantly improves the prognosis of FAP.

Cited by 55 publications

References 17 publications

Nevoid Basal Cell Carcinoma Syndrome: Report from the Zurich Nevoid Basal Cell Carcinoma Syndrome Cohort

Nevoid Basal Cell Carcinoma Syndrome: Report from the Zurich Nevoid Basal Cell Carcinoma Syndrome Cohort

Life expectancy in hereditary cancer predisposing diseases: an observational study

We Don't Know What We Don't Know About Adolescent and Young Adult Patients with Familial Adenomatous Polyposis-Related Colorectal Cancer

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