Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Germline TP5 3 mutations is common in patients with two early‐onset primary malignancies

Germline TP5 3 mutations is common in patients with two early‐onset primary malignancies To the Editor : Li‐Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome, and TP53 is the only definitively associated gene . Per National Comprehensive Cancer Network (NCCN) Guidelines, a patient should be considered for germline TP53 testing if any of the following criteria were met: (i) individual from a family with known TP53 mutation, (2) classic LFS criteria (a proband diagnosed with sarcoma <45 years old, and a first‐degree relative with any cancer diagnosed <45 years old, and a first‐ or second‐degree relative with any cancer diagnosed <45 years old or sarcoma diagnosed at any age), or (iii) Chompret criteria (allow for negative family history if the proband has ≥2 tumors belonging to the LFS spectrum) . As more data pertaining to TP53 genotype–phenotype associations come forth, the testing guidelines will need to adapt to our evolving understanding. In this pilot study, we investigated the prevalence of germline TP53 mutations in patients having two early‐onset primary malignancies, regardless of family history or whether the malignancies belong to the LFS tumor spectrum. We identified four patients with two primary malignancies, first of which diagnosed between birth and 20 years old at Prince of Wales Hospital from 1991 to http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Germline TP5 3 mutations is common in patients with two early‐onset primary malignancies

Download PDF
3 pages

Loading next page...
 
/lp/wiley/germline-tp5-3-mutations-is-common-in-patients-with-two-early-onset-8oOU4eQ0xR

References (7)

Publisher
Wiley
Copyright
© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/cge.12480
pmid
25293557
Publisher site
See Article on Publisher Site

Abstract

To the Editor : Li‐Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome, and TP53 is the only definitively associated gene . Per National Comprehensive Cancer Network (NCCN) Guidelines, a patient should be considered for germline TP53 testing if any of the following criteria were met: (i) individual from a family with known TP53 mutation, (2) classic LFS criteria (a proband diagnosed with sarcoma <45 years old, and a first‐degree relative with any cancer diagnosed <45 years old, and a first‐ or second‐degree relative with any cancer diagnosed <45 years old or sarcoma diagnosed at any age), or (iii) Chompret criteria (allow for negative family history if the proband has ≥2 tumors belonging to the LFS spectrum) . As more data pertaining to TP53 genotype–phenotype associations come forth, the testing guidelines will need to adapt to our evolving understanding. In this pilot study, we investigated the prevalence of germline TP53 mutations in patients having two early‐onset primary malignancies, regardless of family history or whether the malignancies belong to the LFS tumor spectrum. We identified four patients with two primary malignancies, first of which diagnosed between birth and 20 years old at Prince of Wales Hospital from 1991 to

Journal

Clinical Genetics – Wiley

Published: May 1, 2015

There are no references for this article.