The case presented raised our scientific curiosity and it is worthy of being brought in front of the medical audience because of several reasons presented below. Presently, there are 3 hereditary syndromes that have a demonstrated etiological relationship with the colorectal cancer: Familiar Adenomatous Polyposis (FAP syndrome), HNPCC syndrome (Hereditary Nonpoliposis Colorectal Cancer) and MAP...

background: hereditary non-polyposis colorectal cancer (hnpcc) is a common hereditary cancer predisposing syndrome has molecular and clinicopathological features still have remained ambiguous within iranian populations. we discuss in this article some molecular and clinicopathological features of the condition. methods: the study was a descriptive retrospective and designed on 1659 colorectal c...

background: in northeastern iran there is an area of high incidence of esophageal cancer which is populated by residents of turkmen ancestry. several environmental risk factors for esophageal cancer have been proposed, but the roles of familial and genetic factors have not been studied extensively in the turkmen population. materials and methods: we evaluated the importance of familial risk fac...

The hereditary breast/ovarian cancer syndrome is responsible for approximately 5% of all breast cancers and 10% of all ovarian cancers. Although this accounts for a small portion of these diseases, much attention has been focused on this syndrome because of the abundance of research in this area. The majority of the hereditary breast/ovarian syndrome can be attributed to germ-line mutations in ...

COLORECTAL CANCER IS CLASSIFIED IN TO THREE FORMS sporadic (70-75%), familial (20-25%) and hereditary (5-10%). hereditary colorectal cancer syndromes classified into two different subtypes: polyposis and non polyposis. Familial Adenomatous polyposis (FAP; OMIM #175100) is the most common polyposis syndrome, account for <1% of colorectal cancer incidence and characterized by germline mutations i...

Over 1,900 colorectal tumors will arise in association with a hereditary colorectal cancer syndrome in Spain in 2009. The genetic defects responsible for the most common syndromes have been discovered in recent years. Genetic testing helps diagnose affected individuals and allows identification of individuals at-risk. Colonoscopy and prophylactic colectomy decrease colorectal cancer incidence a...

Population with hereditary breast and ovarian cancer syndrome, i.e. BRCA1/2 mutation carriers, are at higher risk of developing breast and ovarian cancer as well as other solid tumours such as pancreatic cancer, prostate cancer and melanoma. With the increasing experience, screening recommendations and preventive strategies including prophylactic surgery are being settled. Surveillance of women...

Two Italian patients with the initial clinical diagnosis of Rothmund-Thomson syndrome were negative for RECQL4 mutations but showed in peripheral blood cells a spontaneous chromosomal instability significantly higher than controls. Revisiting after time their phenotype, suggestive matching autosomal dominant Poikiloderma, Hereditary Fibrosing Tendon Contracture, Myopathy and Pulmonary fibrosis ...

Inherited forms of renal cancer are estimated to account for 2%–5% of all kidney cancer (1). Currently, 10 inherited cancer susceptibility syndromes are definitively associated with an increased risk of renal cancer (Table 1) and are described in more detail below. Patients with these inherited syndromes develop kidney cancer at an earlier age; furthermore, the lesions can be multifocal, bilate...