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Bio SB is proud to announce the launch of our new Fumarate Hydratase antibody for Immunohistochemistry. Developed for Sarcoma and Soft Tissue Cancer Applications, and can be used for the diagnosis of Hereditary Leiomyomatosis and Renal cell carcinoma.
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is an autosomal dominant heritable syndrome with predisposition to development of Renal Cell Carcinoma and Smooth Muscle Tumors of the skin and uterus.
Cells of individuals with HLRCC had lower fumarate hydratase activity than cells from normal controls, making fumarate hydratase antibody activity testing a useful method for diagnosis and screening. Loss-of-function mutations of Fumarate Hydratase or FH predisposes individuals to the autosomal dominant syndrome of Multiple Cutaneous and Uterine Leiomyomatosis (MCUL).
Biallelic inactivation, or mutations of FH. are seen in 85% of Hereditary Leiomyomatosis and Renal Cell Carcinoma cases, 100% of Renal Cell Carcinoma with germline FH mutations, 19% of Papillary Renal Cell Carcinoma (Type II) have FH deficiency and 90% of FH deficiency RCC have FH mutations, 1% of unselected Leiomyomas, 2.6% of Leiomyomas in patients less than 40 years old and 37- 52% of Leiomyoma with bizarre nuclei.
International customers can find out more by visiting our website - https://www.biosb.com/biosb-pr....oducts/fumurate-hydr
US Customers can purchase these products directly from our eCommerce shop here - https://shop.biosb.com/fumarat....e-hydratase-bsb-151-
Bio SB performs R&D, production, distribution and marketing of unique products for Immunohistochemistry (IHC), Immunocytochemistry (ICC), Fluorescent in situ hybridization (FISH), Chromogenic in situ hybridization (CISH) and Polymerase Chain Reaction (PCR) technologies that meet the highest international standards for applications in Molecular Pathology, Cancer Research, Microbiology, Immunology and Genetics. BIO SB manufactures and develops products in accordance with FDA QSR 21 CFR Part 820 cGMP and ISO 13485:2003 standards. These guidelines enable us to produce an IVD product that meets the highest in vitro diagnostic standards.
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The Genetic Basis of Kidney Cancer: Targeting the Metabolic Basis of Disease
Air date: Wednesday, November 20, 2013, 3:00:00 PM
Runtime: 01:05:55
Description:
NIH Wednesday Afternoon Lecture
Annual Astute Clinican Lecture
Dr. Linehan has had a long-standing interest in identification of the genetic basis of cancer of the kidney. Kidney cancer is not a single disease. It is made up of a number of different types of cancer, each of which has a different histology, a different clinical course, which respond differently to therapy and are caused by different genes. Studies of the kidney cancer gene pathways have revealed that kidney cancer is fundamentally a metabolic disease. These findings have provided the foundation for the development of targeted therapeutic approaches for patients with advanced forms of this disease.
The annual Astute Clinician lecture within the NIH Director's Wednesday Afternoon Lecture Series (WALS) highlights exciting clinical observations that have served as a focus for research. This series has been made possible through the generous gift of the late Dr. Robert W. Miller, Scientist Emeritus, National Cancer Institute and his wife, Haruko (Holly) Miller.
For more information go to http://wals.od.nih.gov
Author: Dr. Marston Linehan, Chief, Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, NIH
Permanent link: http://videocast.nih.gov/launch.asp?18182
In this video we discuss how HLRCC is passed on through families. Topics covered include autosomal dominance, alleles, disease penetrance and variable effectivity, and we show examples of all possible genetic outcomes using punnet squares.
Correction: I have edited out a small portion in the original video. I misspoke about the association of Lys477dup mutation and FD. What I should have said is people with the FH mutation Lys477dup often don't have symptoms of HLRCC . However, if they have a child with someone with another HLRCC variant - their children can potentially have FD.
To be clear, the autosomal recessive disorder FH deficiency can be a very disabling disease, often leading to early mortality (perinatal death - young adult). FD has a very large severity range and there is a lot of parent knowledge in the special group Families Fighting Fumarase Deficiency https://www.facebook.com/groups/1518811055057363
Articles about Short Creek Community and FH Deficiency.
https://www.bbc.com/future/art....icle/20170726-the-po
https://www.deseret.com/2006/2..../9/19937275/birth-de
UCLA urologist Brian Shuch, MD, talks about hereditary forms of kidney cancer and who should consider genetic testing to determine their risk for developing kidney cancer. Learn more at http://urology.ucla.edu/kidney-cancer-program
