Tags

Type your tag names separated by a space and hit enter

p53 Testing for Li-Fraumeni and Li-Fraumeni-like syndromes.
Curr Protoc Hum Genet 2008; Chapter 10:Unit 10.10CP

Abstract

Li-Fraumeni Syndrome (LFS; OMIM #151623) is an autosomal dominant cancer predisposition syndrome characterized by early onset tumors including sarcomas, breast cancer, leukemia, brain tumors, and adrenocortical carcinoma. Li-Fraumeni syndrome is primarily attributed to germline mutations in the p53 tumor suppressor gene, which encodes tumor protein 53. In addition to germline p53 mutations, the p53 gene is the most commonly mutated gene in human cancers, with as much as 50% of tumors containing somatic p53 mutations. This unit provides a protocol to perform germline mutation analysis of the p53 gene. The protocol includes steps for amplification and sequencing of the entire coding region of the p53 gene (exons 2 to 11). The protocol was designed for detecting germline alterations from DNA extracted from blood; however, with some additional optimization, it could also be used to detect somatic mutations in DNA extracted from tumors.

Authors+Show Affiliations

City of Hope National Medical Center, Duarte, California, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18428420

Citation

Gonzalez, Kelly, et al. "P53 Testing for Li-Fraumeni and Li-Fraumeni-like Syndromes." Current Protocols in Human Genetics, vol. Chapter 10, 2008, pp. Unit 10.10.
Gonzalez K, Fong C, Buzin C, et al. P53 Testing for Li-Fraumeni and Li-Fraumeni-like syndromes. Curr Protoc Hum Genet. 2008;Chapter 10:Unit 10.10.
Gonzalez, K., Fong, C., Buzin, C., Sommer, S. S., & Saldivar, J. S. (2008). P53 Testing for Li-Fraumeni and Li-Fraumeni-like syndromes. Current Protocols in Human Genetics, Chapter 10, pp. Unit 10.10. doi:10.1002/0471142905.hg1010s57.
Gonzalez K, et al. P53 Testing for Li-Fraumeni and Li-Fraumeni-like Syndromes. Curr Protoc Hum Genet. 2008;Chapter 10:Unit 10.10. PubMed PMID: 18428420.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - p53 Testing for Li-Fraumeni and Li-Fraumeni-like syndromes. AU - Gonzalez,Kelly, AU - Fong,Cindy, AU - Buzin,Carolyn, AU - Sommer,Steve S, AU - Saldivar,Juan-Sebastian, PY - 2008/4/23/pubmed PY - 2008/5/24/medline PY - 2008/4/23/entrez SP - Unit 10.10 EP - Unit 10.10 JF - Current protocols in human genetics JO - Curr Protoc Hum Genet VL - Chapter 10 N2 - Li-Fraumeni Syndrome (LFS; OMIM #151623) is an autosomal dominant cancer predisposition syndrome characterized by early onset tumors including sarcomas, breast cancer, leukemia, brain tumors, and adrenocortical carcinoma. Li-Fraumeni syndrome is primarily attributed to germline mutations in the p53 tumor suppressor gene, which encodes tumor protein 53. In addition to germline p53 mutations, the p53 gene is the most commonly mutated gene in human cancers, with as much as 50% of tumors containing somatic p53 mutations. This unit provides a protocol to perform germline mutation analysis of the p53 gene. The protocol includes steps for amplification and sequencing of the entire coding region of the p53 gene (exons 2 to 11). The protocol was designed for detecting germline alterations from DNA extracted from blood; however, with some additional optimization, it could also be used to detect somatic mutations in DNA extracted from tumors. SN - 1934-8258 UR - https://www.unboundmedicine.com/medline/citation/18428420/p53_Testing_for_Li_Fraumeni_and_Li_Fraumeni_like_syndromes_ DB - PRIME DP - Unbound Medicine ER -