There are multiple hereditary and non-hereditary polyposis syndromes that were originally categorized as adenomatous or hamartomatous. More recently, serrated polyps and their syndromes have been defined. Nearly all of these syndromes have a risk of colorectal cancer in the individuals and affected family members. Most of these syndromes are associated with extracolonic manifestations, includin...

INTRODUCTION Ovarian metastases occur in 3 to 8% of women with primary colon cancer. In the setting of a pre-existing colorectal carcinoma this would constitute a hereditary non-polyposis colorectal cancer, Lynch 2 syndrome, accounting for 5 to 10% of colon cancer cases. We unveil a case of 'giant' ovarian tumors mimicking primary ovarian cancer; ostensibly the first reported in East Africa. ...

Dear Editors: Adenocarcinoma of colon and rectum is the second most common cancer of the gastrointestinal (GI) tract in children. The development of carcinoma of colon in general appears to be associated with several predisposing factors such as familial polyposis, hereditary non-polyposis syndromes, ulcerative colitis, previous ureterosigmoidostomy or radiation therapy and dietary factors (hig...

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 & AIMS Specific mutations in the adenomatous polyposis coli (APC) gene can lead to an attenuated form of familial adenomatous polyposis (AFAP). Although AFAP mutation carriers have a 69% risk of colorectal cancer by age 80, clinical recognition remains a challenge in some cases because they present with few colonic adenomas and are difficult to distinguish clinically from patients wi...

Alias: Familial pancreatic cancer Inheritance It has been estimated that as many as 10% of pancreatic cancers have a hereditary basis; five genetic syndromes have been identified that are associated with the familial aggregation of pancreatic cancer; these include: The second breast cancer syndrome (BRCA2), the familial atypical multiple mole melanoma (FAMMM), the Peutz-Jeghers Syndrome, the he...

BACKGROUND Up to 15% of colorectal cancers are characterised by DNA microsatellite instability (MIN), shown by the presence of DNA replication errors (RERs). AIMS To identify pathological features that are discriminating for colorectal cancer (CRC) showing extensive MIN. SUBJECTS A prospective series of 303 patients with CRC and no family history of either familial adenomatous polyposis or ...

BACKGROUND The hereditary non-polyposis colorectal cancer (HNPCC) syndrome is caused by germline mutations in mismatch repair genes and predisposes individuals to cancers of the colon and other specific sites. On theoretical grounds, it is expected that patients with HNPCC also develop more colorectal adenomas than the general population. In essence, if the mutation rate is raised owing to muta...

Research in genetics has facilitated the identification of highly penetrant genes responsible for a large number of diseases. In the oncology field, genetic counselling and gene testing are focused on the two most common syndromes in familial cancer: hereditary breast and ovarian cancer syndrome (HBOC) and hereditary non-polyposis colorectal cancer or Lynch syndrome (LS). The objective of this ...

Iatrogenic ileostomies are routinely placed during colorectal surgery for the diversion of intestinal contents to permit healing of the distal anastomosis prior to elective reversal. We present an interesting case of spontaneous closure of a diverting ileostomy without any adverse effects to the patient. A 65-year-old woman, positive for hereditary non-polyposis colorectal cancer type-I, with l...