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Familial juvenile polyposis (JP) is an uncommon genetic disorder that, if untreated, can lead to gastrointestinal cancer. To evaluate familial JP prevalence, phenotypic manifestations, causative mutations, treatment and compliance for diagnosis and follow-up in our registry. Since 1993 our...
Hereditary nonpolyposis colorectal cancer (HNPCC) may be caused by germline truncating mutations in DNA mismatch repair (MMR) genes. Whether or not missense or inframe mutations are disease-associated has become a practical clinical problem, because predictive genetic testing is employed to...
We sought to determine whether rare cancers indicate an increased risk of inherited cancer susceptibility. We ascertained 77 individuals with rare cancers which occur with increased relative risk in carriers of germline BRCA1/BRCA2 (fallopian, young-onset pancreatic) or HNPCC (biliary, small...
To study quality of life among patients living with a hereditary tumor syndrome, the small group with multiple endocrine neoplasia type 1 (MEN1) was selected. It is characterized by multifocal adenomas of the pancreas, parathyroid, anterior pituitary and other endocrine glands. Patients were...
The concept of family history of disease has been used as a surrogate for genetic susceptibility in many epidemiological studies and has also been important as a criterion for selecting individuals for genetic testing. However, little is known about the precise interplay between the true genetic...
Over the last decade, a subset of familial adenomatous polyposis(FAP) patients with a milder course of disease termed attenuated familial adenomatous polyposis (AFAP) has been described. AFAP is not well-defined as a disease entity – the reports on AFAP are largely casuistic or only deal with a...
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