Managing families with a hereditary cancer syndrome.

Evaluation of MLH1 and MSH2 Gene Mutations in a Subset of Iranian Families with Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

سندرم Lynch -l و گزارش شش مورد بیمار مبتلا

More than two decades ago, Henry T. Lynch reported a hereditary non polyposis colorectal cancer (HNPCC) which is seen in some families with dominant mode of inheritance, also know as Lynch Syndrome type I and II. This form to hereditary colorectal cancer has an early age of onset (Less than 45 years) with predominantly proximal colonic involvement (type I) and can also be associated with extrac...

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC syndrome): a case report

Recently multiple cutaneous leiomyomas, uterine leiomyoimatosis and renal cancer have been described as a cancer syndrome with autosomal dominant pattern of inheritance.We report a 79-year-old man who presented with multiple hyperkertotic erythematous nodules on his right leg with histological diagnosis of pilar leiomyoma. In his past medical history several systemic co...

Hereditary Nonpolyposis Colorectal Cancer (HNPCC)/Lynch Syndrome: Surveillance and Diagnostic strategies

Introduction: Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) is an autosomal dominant genetic disease. The disease is caused by a mutation in one of four genes of the DNA mismatch repair system and increases the risk for various cancers, especially the uterine and colon cancers. The prevalence of this disease in the general population is about 1 in 500 and it causes about 2-3...

Detecting and managing hereditary colorectal cancer syndromes in your practice.

Hereditary syndromes account for 5% to 10% of cases of colorectal cancer. In clinical practice, patients with these syndromes need to be identified to ensure that they and their families receive genetic counseling and testing and appropriate risk-reducing treatment. Genetic testing can offer a precise diagnosis. It allows for risk stratification and focused management and surveillance.

شناسایی جهش های جدید در اگزون 11 ژنBRCA1 در بیماران مبتلا به سرطان پستان ارثی

Introduction: Breast cancer is the most common malignancy in women worldwide. BRCA1 is a tumor suppressor gene that is involved in DNA-damage repair. One of the significant risk factors of breast cancer is the family history. BRCA1 gene consists of 24 exons that encode a protein with 1863 amino acids. Exon 11 is the largest exons and most of the disease-linked mutations have been found in it. I...