Deborah Packham
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Explore the profile of Deborah Packham including associated specialties, affiliations and a list of published articles.
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14
Citations
272
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Recent Articles
1.
Poulos R, Perera D, Packham D, Shah A, Janitz C, Pimanda J, et al.
JNCI Cancer Spectr
. 2019 Jul;
3(2):pkz012.
PMID: 31360895
Background: Genetic testing of cancer samples primarily focuses on protein-coding regions, despite most mutations arising in noncoding DNA. Noncoding mutations can be pathogenic if they disrupt gene regulation, but the...
2.
Liu Q, Thoms J, Nunez A, Huang Y, Knezevic K, Packham D, et al.
Clin Cancer Res
. 2018 Jun;
24(18):4602-4611.
PMID: 29898989
is a major tumor suppressor gene involved in the pathogenesis of Lynch syndrome and various sporadic cancers. Despite their potential pathogenic importance, genomic regions capable of regulating expression over long...
3.
Liu Q, Hesson L, Nunez A, Packham D, Hawkins N, Ward R, et al.
Cancer Genet
. 2016 Nov;
209(11):497-500.
PMID: 27886675
Lynch syndrome is a hereditary cancer syndrome caused by the autosomal dominant inheritance of loss-of-function mutations in DNA mismatch repair (MMR) genes. Approximately one quarter of clinically suspected cases have...
4.
Hesson L, Ng B, Zarzour P, Srivastava S, Kwok C, Packham D, et al.
Mol Cancer Res
. 2016 Sep;
14(12):1217-1228.
PMID: 27671336
Implications: The novel genetic, epigenetic, and transcriptional changes associated with LST development reveal important insights into why some adenomas do not progress to cancer. The finding that LSTs exhibit a...
5.
Thoms J, Knezevic K, Liu J, Glaros E, Thai T, Qiao Q, et al.
Mol Cell Biol
. 2016 Feb;
36(8):1222-36.
PMID: 26830229
Dihydrofolate reductase (DHFR) is a critical enzyme in the folate metabolism pathway and also plays a role in regulating nitric oxide (NO) signaling in endothelial cells. Although both coding and...
6.
Liu Q, Hesson L, Nunez A, Packham D, Williams R, Ward R, et al.
Carcinogenesis
. 2015 Oct;
37(1):10-17.
PMID: 26498247
Lynch syndrome is an autosomal dominant disorder that predisposes carriers of DNA mismatch repair (MMR) gene mutations to early-onset cancer. Germline testing screens exons and splice sites for mutations, but...
7.
Sloane M, Nunez A, Packham D, Kwok C, Suthers G, Hesson L, et al.
JAMA Oncol
. 2015 Jul;
1(7):953-7.
PMID: 26181641
Importance: Constitutional hypermethylation of 1 allele throughout the soma (constitutional epimutation) is an accepted mechanism of cancer predisposition. Understanding the origin and inheritance of epimutations is important for assessing cancer...
8.
Hesson L, Packham D, Kwok C, Nunez A, Ng B, Schmidt C, et al.
Hum Mutat
. 2015 Mar;
36(6):622-30.
PMID: 25762362
Lynch syndrome is a hereditary cancer syndrome caused by a constitutional mutation in one of the mismatch repair genes. The implementation of predictive testing and targeted preventative surveillance is hindered...
9.
Hesson L, Packham D, Pontzer E, Funchain P, Eng C, Ward R
Biol Proced Online
. 2012 Apr;
14(1):5.
PMID: 22490388
Background: PTEN is an important tumour suppressor gene that is mutated in Cowden syndrome as well as various sporadic cancers. CpG island hypermethylation is another route to tumour suppressor gene...
10.
Goel A, Nguyen T, Leung H, Nagasaka T, Rhees J, Hotchkiss E, et al.
Int J Cancer
. 2010 May;
128(4):869-78.
PMID: 20473912
Lynch syndrome is an autosomal dominant cancer predisposition syndrome classically caused by germline mutations of the mismatch repair genes, MLH1, MSH2, MSH6 and PMS2. Constitutional epimutations of the MLH1 gene,...