CNS: central nervous system IHC: immunohistochemistry MMR: mismatch repair MTS: Muir-Torre syndrome M uir-Torre syndrome (MTS) is an autosomal-dominant variant of Lynch hereditary cancer syndrome. MTS is defined by sebaceous neoplasms occurring in association with 1 or more internal malignancies. The sebaceous neoplasms that characterize MTS are rare among the general population and include seb...

Studies of hereditary cancer syndromes have contributed greatly to our understanding of molecular events involved in tumor genesis. One such syndrome of our interest is Peutz-Jeghers Syndrome, a hereditary disease, in which there is predisposition to benign and malignant tumors of many organ systems. Here, we investigate the genes responsible for the Peutz-Jeghers syndrome (PJS) and the pathway...

BACKGROUND Approximately 2% to 5% of endometrial cancers may be due to an inherited susceptibility. Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, an autosomal-dominant inherited cancer susceptibility syndrome caused by a germline mutation in one of the DNA mismatch repair genes, accounts for the majority of inherited cases. Lynch syndrome is associate...

The spectrum of hereditary (autosomal dominant) renal cancer syndrome is widening with time. Von Hippel-Lindau (VHL) disease was first to be identified. Attention has been focused on novel localizations of VHL disease (in addition to central nervous system and retinal involvement, bilateral and multifocal renal cell carcinoma [RCC], and pheochromocytoma), such as pancreas cysts and tumors and, ...

Abstract Introduction Guidelines on the management of hereditary CRC were updated in 2019 and have led to more stringent use surveillance colonoscopies. Patients with ‘family history’ (FH) Surveillance programme at York Hospitals Trust studied assess compliance colonoscopy recommendations. Method Current BSG/ACPGBI guidelines recommend biennial, quinquennial, one-off or no for patients Lynch sy...

Background With a population of approximately 4.380 million people and an estimated Lynch syndrome mutation prevalence of 1/531, there are an expected 8000 individuals with Lynch syndrome in British Columbia. The Hereditary Cancer Program (HCP) of the BC Cancer Agency (BCCA) has provided clinical testing for Lynch syndrome since 2004 to patients across the province. Currently, there are approxi...

Hereditary nonpolyposis colorectal cancer syndrome (HNPCC) is an autosomal-dominant inherited cancer susceptibility syndrome that is associated with increased risk of development of endometrial and ovarian cancers. Therefore, women with HNPCC are candidates for chemoprevention of gynecological cancers. Although there have been a number of clinical trials examining chemoprevention strategies for...

R isk stratification is essential for designing efficacious and cost effective colon cancer screening programmes. One of the most important risk factors for colorectal cancers (CRC) is an inherited predisposition, implicated in 20% of all cases. The spectrum of genetic susceptibility ranges from the low penetrance mutations that modestly increase the colon cancer risk (for example, I 1307K) to ...

BACKGROUND This study aimed to examine family history among Japanese ovarian cancer patients and to investigate the TP53 status of fallopian tube epithelial and ovarian cancer cells in a Japanese BRCA1 mutant case that may be associated with the transformed state in hereditary ovarian cancer. METHODS One hundred and two primary ovarian cancer patients were retrospectively evaluated in this cr...

The annual worldwide incidence of colorectal cancer (CRC) is 944,717 with a mortality of 492,411 [1]. Approximately 5% to 10% of this total CRC burden is due to primary Mendelian inheritance factors, making hereditary CRC a major public health problem throughout the world. These estimates of the hereditary burden of CRC may be conservative when considering the existence of low-penetrant genes s...