In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from that cohort who reported a positive fa...

Renal clear cell carcinomas represent about 3% of all visceral cancers and account for approximately 85% of renal cancers in adults. Environmental and genetic factors are involved in the development of renal cancer. Although to date there are 19 hereditary syndromes described in which renal cell cancer may occur, only four syndromes with an unequivocal genetic predisposition to renal cell carci...

BACKGROUND Pancreatic cancer represents the fourth-leading cause of cancer death in the United States, with a dismal 5-year survival rate of less than 5%. Despite advancements in screening and early detection of other cancers such as breast and colon cancer, no reliable screening test exists for pancreatic cancer. Subsequently, the majority of patients present with advanced-stage disease leadin...

BACKGROUND A growing number of individuals are diagnosed with hereditary cancer. Though increased levels of anxiety and depression have been demonstrated around the time of genetic counselling, most individuals handle life at increased risk well. Data have, however, been collected on individual basis, which led us to focus on family perspectives of hereditary cancer. METHODS Lynch syndrome re...

Drs. Levine and Gemignani have provided a comprehensive review of the literature regarding the management of patients with hereditary breast/ovarian cancer syndrome. As noted, over 200,000 new cases of breast cancer and 25,000 new cases of ovarian cancer are estimated for 2003.[1] Only a small portion of these cases will be hereditary; however, these are the cases that may benefit from preventi...

The cardinal features of colorectal cancer in patients with the MUTYH-associated polyposis syndrome, featured in this editorial, are of very recent discovery and remain under review as new clinical phenotypes for these patients are still being identified. Importantly, its phenotype results from homozygosity of the MUTYH gene and, therefore, is inherited in an autosomal recessive pattern. In a m...

BACKGROUND/AIMS Hereditary pancreatic cancer comprises about 10% of pancreatic cancer cases. Multiple causative mutations have been identified. Here we describe a pancreatitis/pancreatic cancer (P/PC) family, which demonstrates pancreatitis and pancreatic cancer resulting from an uncharacterized mutation. METHODS Family members completed evaluations to determine signs of mutation status. Sele...

Lynch syndrome (hereditary non-polyposis colorectal cancer) is a cancer predisposition caused by mutations in mismatch repair genes. Carcinoma of the colon, endometrium, ovary and urothelium are most common. Soft tissue tumours not typically associated with syndrome, however, sarcoma has rarely been reported. We present case vulval angiomyofibroblastoma patient known syndrome. The 75-year-old f...

Russia and other countries report an increase in the incidence of malignant neoplasms, approximately 10 % all oncological cases have hereditary background. Molecular genetic testing patients with diagnosed neoplasms a suspected factor will help to select effective modern methods treatment prevention development localizations.
 According study, 12,6 had cancer syndrome, which allowed admini...

parkinsonism is used to describe a syndrome manifested by any combination of six cardinal features: tremor at rest, rigidity, bradykinesia, loss of postural reflexes, flexed posture and the freezing. decreased dopaminergic neurotransmission in the basal ganglia is the core biochemical pathology in parkinsonism. hereditary parkinsonism includes various heredodegenerative diseases such as hallerv...