View Main Condition: Anemia
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.
Mutations in at least 15 genes can cause Fanconi anemia. Proteins produced from these genes are involved in a cell process known as the FA pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway sends certain proteins to the area of damage, which trigger DNA repair so DNA replication can continue.
Fanconi anemia occurs in 1 in 160,000 individuals worldwide. This condition is more common among people of Ashkenazi Jewish descent, the Roma population of Spain, and Black South Africans.
Fanconi anemia is most often inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Parinda Mehta is a Pediatric Hematologist Oncology specialist and a Hematologist in Cincinnati, Ohio. Mehta has been practicing medicine for over 30 years and is rated as an Elite expert by MediFind in the treatment of Fanconi Anemia. She is also highly rated in 17 other conditions, according to our data. Her top areas of expertise are Fanconi Anemia, Congenital Aplastic Anemia, Aplastic Anemia, Anemia, and Bone Marrow Transplant. She is licensed to treat patients in Ohio. Mehta is currently accepting new patients.
Paula Rio practices in Madrid, Spain. Rio is rated as an Elite expert by MediFind in the treatment of Fanconi Anemia. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Congenital Aplastic Anemia, Fanconi Anemia, Aplastic Anemia, Anemia, and Bone Marrow Transplant.
Stella Davies is a Hematologist Oncology specialist and a Pediatrics expert in Cincinnati, Ohio. Davies has been practicing medicine for over 34 years and is rated as an Elite expert by MediFind in the treatment of Fanconi Anemia. She is also highly rated in 45 other conditions, according to our data. Her top areas of expertise are Congenital Aplastic Anemia, Fanconi Anemia, Aplastic Anemia, Bone Marrow Transplant, and Abdominal Wall Surgery. She is licensed to treat patients in Ohio. Davies is currently accepting new patients.
Summary: This phase II trial studies how well olaparib works in treating patients with biliary tract cancer that has spread to other places in the body (metastatic) and with aberrant DNA repair gene mutations. Olaparib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth.
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer. These cancer-...
Published Date: January 01, 2012Published By: National Institutes of Health