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Medical Genetics of Colon Cancer
Medical Genetics of Colon Cancer administrator 3 Views • 2 years ago

https://www.amazon.com/Medical....-Genetics-Cancer-App This article collection reviews the medical genetics of colon cancer and includes 18 papers by various authors. Topics include: Colon cancer associated genes exhibit signatures of positive selection at functionally significant positions; Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report; Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?; Simplifying the detection of MUTYH mutations by high resolution melting analysis; Colorectal carcinomas with microsatellite instability display a different pattern of target gene mutations according to large bowel site of origin; Analysis of colorectal cancers in British Bangladeshi identifies early onset, frequent mucinous histotype and a high prevalence of RBFOX1 deletion; Genotyping panel for assessing response to cancer chemotherapy; Early-onset colorectal cancer patients without family history are “at very low risk” for lynch syndrome; Hereditary Colorectal Cancer in China; Some aspects of molecular diagnostics in Lynch syndrome; Abstracts from the 10th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer, November 9-10, 2006, Nashville, Tennessee, United States; MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer; Drug therapy for hereditary cancers; Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review; Hereditary cancer risk assessment: essential tools for a better approach; Colorectal cancer and self-reported tooth agenesis; Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk; Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes.

Understanding Autosomal Dominant and Autosomal Recessive Inheritance
Understanding Autosomal Dominant and Autosomal Recessive Inheritance administrator 2 Views • 2 years ago

A visual explanation of the how Mendelian Inheritance works, and how children inherit autosomal recessive conditions like Cystic Fibrosis or autosomal dominant conditions like Huntingtons Chorea.

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MYH - Medical Meaning and Pronunciation
MYH - Medical Meaning and Pronunciation administrator 3 Views • 2 years ago

Goodies: https://geni.us/medical-dictionary

Title: MYH

MYH: A base excision repair gene responsible for an hereditary colon cancer syndrome. MYH is located on the short (p) arm of chromosome 1 in region 1p34.3-p32.1. MYH encodes an enzyme that removes the base adenine from mispairs (with 8-oxoguanine) that arise during the replication of oxidized DNA. MYH is also known as MUTYH. A substantial proportion of people with multiple polyps in the colon, perhaps as many as 30% of those who have 15 to 100 polyps, have biallelic MYH mutations. (Both of their MYH genes are mutant.) From another perspective, up to 10% of families thought to have FAP (familial adenomatous polyposis) but who do not have the usual mutation in the APC gene, have biallelic mutations in the MYH gene. The MYH syndrome is inherited in an autosomal recessive manner. Most people with the syndrome do not have a multigenerational family history of polyps or cancer of the colon but may have brothers or sisters with it. The MYH syndrome can result in very few or several hundred polyps in the colon. There is no tendency to extracolonic tumors (growths outside the colon and rectum) associated with MYH. In sum, the MYH syndrome is an autosomal recessive form of colorectal adenomatous polyposis (familial adenomatous polyposis or familial polyposis of the colon and rectum).

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