Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.

Background: Colorectal adenomatous polyposis is associated with a high risk of colorectal cancer (CRC) and is frequently caused by germline mutations in APC or MUTYH. However, in about 20-30% of patients no underlying gene defect can be identified. In this study, we tested if recently identified CRC risk variants play a role in patients with >10 adenomas.

Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.

Patients with germline PTEN mutations are at high risk of developing benign and malignant tumours. We aimed to evaluate the cumulative risk of several types of cancer and of dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease, LDD). In addition, genotype-phenotype correlations in PTEN hamartoma tumour syndrome (PHTS) were assessed.

Surgical management for advanced duodenal adenomatosis and duodenal cancer in Dutch patients with familial adenomatous polyposis: a nationwide retrospective cohort study.

Background: Duodenal cancer is a major cause of mortality in patients with familial adenomatous polyposis (FAP). The clinical challenge is to perform duodenectomy before cancer develops; however, procedures are associated with complications. Our aim was to gain insight into the pros and cons of prophylactic duodenectomy.

Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study.

Background: Ability to identify patients with familial adenomatous polyposis who have a high risk of developing desmoid tumors may affect decisions in clinical practice.

Objectives: Our aim was to assess several risk factors for desmoid tumor development in an international cohort of patients with familial adenomatous polyposis and to evaluate the clinical relevance of risk factors.

Design: This was a retrospective cohort study.

A nation-wide study comparing sporadic and familial adenomatous polyposis-related desmoid-type fibromatoses.

Desmoid-type fibromatoses are neoplasms of fibroblastic origin, occurring sporadically or associated with familial adenomatous polyposis (FAP) coli. By comparing sporadic and FAP-associated desmoid-type fibromatoses, we tried to identify clinical characteristics, which may indicate FAP. Histopathology data of all Dutch patients with desmoid-type fibromatoses diagnosed between 1999 and 2009 were retrieved from PALGA, the nation-wide network and registry of histopathology in the Netherlands.

Female fertility after colorectal surgery for familial adenomatous polyposis: a nationwide cross-sectional study.

Background: Information on postoperative fertility problems in female patients with familial adenomatous polyposis (FAP) is scarce. Previous studies in FAP or colitis patients almost uniformly describe a reduction in fertility after ileal pouch-anal anastomosis, compared with ileorectal anastomosis.

Objective: To describe fertility problems in female FAP patients after colectomy and to investigate the relationship between self-reported fertility problems and the type of operation and other surgery-related factors (eg, comorbid conditions).

Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery.

Purpose: Genetic information may help preoperatively select patients with familial adenomatous polyposis for either colectomy with ileorectal anastomosis or proctocolectomy with ileal pouch-anal anastomosis. Although complicated, the latter procedure has a low long-term risk of rectal cancer.

Methods: Data were obtained from four national polyposis registries.

[Desmoid tumour as indication of familial adenomatous polyposis].

In two patients, a man aged 43 and a woman aged 40 years, who presented with a desmoid tumour, familial adenomatous polyposis (FAP) was diagnosed three and six years later, respectively. The second patient had developed metastatic rectal cancer. Desmoid-type fibromatoses usually develop sporadically, but may also be an extracolonic manifestation of FAP.

Desmoid tumors in a dutch cohort of patients with familial adenomatous polyposis.

Background & Aims: Desmoid tumors are a severe extracolonic manifestation in familial adenomatous polyposis (FAP). Identification of risk factors might be helpful in the management of FAP patients with such tumors. The aim of this study was to assess potential risk factors for the development of desmoids in a cohort of Dutch FAP patients.