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MUTYH (or MYH)-Associated Polyposis

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.

Written notes can be found here: https://zerotofinals.com/paedi....atrics/genetics/inhe

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Zero to Finals Paediatrics book:
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Zero to Finals Obstetrics and Gynaecology book:
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Colorectal Cancer and Polyposis Syndromes
Colorectal Cancer and Polyposis Syndromes administrator 3 Views • 2 years ago

Excerpt from the March 2022 ICARE Genetics Case Conference focused on colorectal cancer and polyposis syndromes with guest expert Heather Hampel, LGC.
Blum Center Program: Cancer Center Genetic Series – Hereditary Colon Cancer
Blum Center Program: Cancer Center Genetic Series – Hereditary Colon Cancer administrator 2 Views • 2 years ago

Colorectal cancer is the third most common cancer diagnosed in both men and women in the United States. A portion of these colon cancers are due to genetic predisposition genes. In this presentation from July 24, 2020, Chandrika Kurpad, MS, LCGC, discusses colon cancer-causing genes and what you can do if colon cancer runs in your family.
Human Mutation - MUTYH gene expression and alternative splicing in controls and polyposis patients
Human Mutation - MUTYH gene expression and alternative splicing in controls and polyposis patients administrator 1 Views • 2 years ago

Video Abstract: Author Guido Plotz on his recently published Human Mutation paper entitled "MUTYH gene expression and alternative splicing in controls and polyposis patients".
Read the paper online: http://onlinelibrary.wiley.com..../doi/10.1002/humu.22

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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Large Transverse Colon Polyp - EMR in a patient MYH-associated polyposis
Large Transverse Colon Polyp - EMR in a patient MYH-associated polyposis administrator 2 Views • 2 years ago

Problem: Multiple polyps in a woman with MYH-associated polyposis who was recommended to undergo colectomy. She preferred to get the large polyp removed to buy time, despite the recommendation to undergo surgery as she could not take time out for surgery.
Polyp: Large polyp occupying nearly 40% of circumference. Notice tattoo mark close to the polyp (one should avoid it as this causes scarring and makes resection technically difficult).
Piecemeal EMR: Sequential injection of dilute Indigo Carmine followed by snare resection. Small central tethered area was biopsied and submitted in a separate jar; rest of the polyp in a different jar. Closure was hard due to scarring from prior tattoo injection into the base of the polyp and large size of resection.
Plan: Recommend surgery
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