Talk:Genetics - Chromosome 17

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On this website the Discussion Tab or "talk pages" for a topic has been used for several purposes: References - recent and historic that relates to the topic Additional topic information - currently prepared in draft format Links - to related webpages Topic page - an edit history as used on other Wiki sites Lecture/Practical - student feedback Student Projects - online project discussions. Links: Pubmed Most Recent | Reference Tutorial | Journal Searches Glossary Links Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link Cite this page: Hill, M.A. (2024, April 28) Embryology Genetics - Chromosome 17. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Genetics_-_Chromosome_17

2018

Unmasking a Case of Asymptomatic Charcot-Marie-Tooth Disease (CMT1A) With Vincristine

J Investig Med High Impact Case Rep. 2018 Feb 26;6:2324709618758349. doi: 10.1177/2324709618758349. eCollection 2018 Jan-Dec.

Jariwal R1, Shoua B1, Sabetian K1, Natarajan P1, Cobos E1.

Abstract

Charcot-Marie-Tooth (CMT) disease is a hereditary demyelinating disease of the peripheral nervous system that results in sensory and motor dysfunction. CMT includes a spectrum of diseases with different types of mutations in the genes encoding myelin protein, resulting in a variety of dysfunctions in its life cycle. In CMT subtype 1A there is duplication mutation of peripheral myelin protein 22 gene on chromosome 17. Incomplete penetrance, gene-dosage effect, and variable expressivity can attribute to the asymptomatic nature of the disease in some subset of patients. Vincristine administration is contraindicated in patients who are alrea\dy diagnosed with CMT disease. We report a case of asymptomatic CMT disease unmasked only by the neurotoxic effects of vincristine. Genetic testing for a patient with a preexisting family background of inherited diseases before starting vincristine therapy can potentially prevent a disability. KEYWORDS: Charcot-Marie-Tooth disease (CMT1A); chromosome 17p11.2; electromyography; hereditary motor and sensory neuropathy; nerve conduction study; neurotoxic; peripheral myelin protein (PMP) 22 gene; vincristine PMID: 29511693 PMCID: PMC5833168 DOI: 10.1177/2324709618758349

2017

The prodigious network of chromosome 17 miRNAs regulating cancer genes that influence the hallmarks of cancer

Semin Oncol. 2017 Aug;44(4):254-264. doi: 10.1053/j.seminoncol.2017.11.001. Epub 2017 Nov 10.

Achyutuni S1, Nadhan R2, Sengodan SK2, Srinivas P3.

Abstract

Chromosome 17 (Chr17) harbors crucial genes that encode proteins implicated in a variety of cancers, including some that guard cancer cells from genomic instability and others that interfere with metastasis. Included amongst the genes on chr17 that regulate biological processes fundamental to the genesis of cancer are TP53, BRCA1, CCL5, NF-1, and GRB7. As many as 50% of all human tumors and at least 30% of breast carcinomas contain p53 mutations, while 30%-40% of breast cancers have defective BRCA1. A large number of proteins regulate the expression of these cancer genes on chr17 with miRNAs, the most widely studied class of regulatory RNAs, playing a major role in epigenetically controlling the gene expression programs, thereby managing various cellular functions. This review provides information on the genes transcribed from chr17, and their regulation by miRNAs in the context to tumorigenesis located on chr17, along with an analysis of the receptor status (estrogen, progesterone, and Her2/Neu) from the miRNA prediction data of miRNA genes located on chr17. KEYWORDS: Cancer; Chromosome 17; miRNA PMID: 29526253 DOI: 10.1053/j.seminoncol.2017.11.001