This study examined long-term cause-specific mortality among 998 Dutch retinoblastoma survivors, diagnosed from 1862 to 2005, according to follow-up time, treatment and heredity. After a median follow-up of 30.8 years, only cause-specific mortality for second malignancies among hereditary retinoblastoma survivors was statistically significantly increased with 12.8-fold. Risk of death from secon...

Microsatellite instability implying multiple replication errors (RER+ phenotype) characterizes a proportion of colorectal carcinomas, particularly those from patients with the hereditary non-polyposis colorectal carcinoma syndrome. We studied the incidence of microsatellite instability in more than 500 sporadic tumors representing 6 different types of cancer. Apart from colorectal carcinoma [se...

Approximately 5% of differentiated thyroid cancers are hereditary. Hereditary non-medullary thyroid cancer may occur as a minor component of familial cancer syndromes (e.g. familial adenomatous polyposis) or as a primary feature (familial non-medullary thyroid cancer [FNMTC]). Among FNMTC, PTC is the most common. Although a hereditary predisposition to non-medullary thyroid cancer is well estab...

The village of Seascale, near the Sellafield nuclear reprocessing plant, is best known in epidemiological circles for its longstanding high incidence ofmalignant disease in young people,' which has recently been confirmed as having persisted during 1984-90.2 Throughout, the excess has been largely accounted for by leukaemia and non-Hodgkin's lymphoma. No cases of retinoblastoma have been found ...

BACKGROUND RNASEL is thought to be a susceptibility gene for hereditary prostate cancer and encodes the endoribonuclease RNase L, which has a role in apoptosis and is a candidate tumour-suppressor protein. A common sequence variation in RNASEL, Arg462Gln, has been associated with hereditary and sporadic prostate cancer, and the Gln variant has about three-fold reduced RNase activity in vitro. I...

Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2, associated with Hereditary Breast/Ovarian Cancer syndrome, have up to an 85% lifetime risk of breast cancer and up to a 46% lifetime risk ovarian cancer. Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2 or MSH6, associated with the Lynch/Hereditary Non-Polyposis Colorectal Cancer (HNPCC...

coexisting ankylosing spondylitis and hereditary multiple exostoses have rarely been reported (three patients) previously. a 27-year-old man with hereditary multiple exostoses is presented as a fourth report. at the age of 15 years, the patient had multiple exostoses around the knee, ankle and shoulder joints. he was diagnosed with ankylosing spondylitis 3 years ago. the patient’s sister and hi...

background: neonates affected by hereditary spherocytosis may suffer from significant jaundice. this study was conducted on neonates with jaundice hospitalized at the children’s hospital in bandar abbas, south iran, to determine the frequency of hereditary spherocytosis among them. patients and methods: in this cross-sectional study, 814 neonates with jaundice hospitalized at the children’s hos...

α-Fetoprotein is a well-established tumor marker for non-seminomatous germ cell tumors. Elevated α-fetoprotein levels, however, result from a variety of clinical conditions. Hereditary persistence of α-fetoprotein is a rare benign disorder in which serum α-fetoprotein levels are persistently elevated, but there are no disabilities and symptoms. A 35-year-old man was diagnosed with pT1 testicula...