Hereditary colon cancer in Lynch syndrome/HNPCC syndrome in Germany

Der Pathologe
R Büttner, N Friedrichs

Abstract

Hereditary nonpolyposis colorectal cancer (Lynch/HNPCC syndrome) is based on a germline mutation inducing increased occurrence of colorectal cancer and extracolonic carcinomas in young age. The German HNPCC consortium aims to increase awareness for detection of hereditary colon cancer among patients and physicians. Reliable detection of HNPCC patients is based on a thorough documentation of patients' medical history and on further diagnostics delivered by human genetics and surgical pathology. This manuscript presents a standardized diagnostic concept. Relevant literature is reviewed and discussed and diagnostic parameters are outlined. In addition, operating figures of the German HNPCC consortium are presented. The German HNPCC consortium is based on an efficient cooperation between clinical physicians, human geneticists, and surgical pathologists. After a funding period from the Deutsche Krebshilfe, HNPCC diagnostics and preventive medical examinations were transferred into standard care in Germany. In total, 5770 families (8873 patients) were included in HNPCC diagnostics. To date, in 1296 families, mutations of the MLH1-, MSH2-, MSH6-, PMS2-, or EPCAM-gene have been detected. Furthermore, 612 pathogenic variants and 325 var...Continue Reading

References

Jun 1, 1971·Cancer·H T Lynch, A J Krush
Jul 1, 1995·Journal of the American Academy of Dermatology·R A Schwartz, D P Torre
Mar 7, 2003·The New England Journal of Medicine·Henry T Lynch, Albert de la Chapelle
Jan 26, 2006·Critical Reviews in Oncology/hematology·Wael M Abdel-RahmanPäivi Peltomäki
Feb 16, 2006·European Journal of Human Genetics : EJHG·Henry T LynchAlbert de la Chapelle
Oct 22, 2008·Laboratory Investigation; a Journal of Technical Methods and Pathology·Marcus BettstetterWolfgang Dietmaier
Nov 3, 2010·Clinics in Colon and Rectal Surgery·Fatima A Haggar, Robin P Boushey
Jan 14, 2011·The Journal of Molecular Diagnostics : JMD·Kandelaria RumillaStephen N Thibodeau
Mar 6, 2012·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Cathrin HuthHendrik Bläker
Oct 21, 2016·Archives of Gynecology and Obstetrics·Karin KastPauline Wimberger

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Chao-fu WangDa-ren Shi
European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ECP)
M Ponz de Leon
© 2021 Meta ULC. All rights reserved