Deborah Packham
University of New South Wales
16 Papers
13 Citations
Deborah Packham is an academic researcher from University of New South Wales. The author has contributed to research in topics: MLH1 & Lynch syndrome. The author has an hindex of 11, co-authored 16 publications. Previous affiliations of Deborah Packham include St. Vincent's Health System.
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Papers
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer
Megan P. Hitchins,Rachel Williams,Kayfong Cheong,Nimita Halani,Vita Ap Lin,Deborah Packham,Deborah Packham,Sue Ku,Andrew Buckle,Nicholas J. Hawkins,John Burn,Steven Gallinger,Jack Goldblatt,Judy Kirk,Ian Tomlinson,Rodney J. Scott,Allan D. Spigelman,Catherine M. Suter,David I. K. Martin,Graeme Suthers,Robyn L. Ward,Robyn L. Ward +21 more
TL;DR: Germline MLH1 epimutations are functionally equivalent to an inactivating mutation and produce a clinical phenotype that resembles HNPCC, and should be suspected in younger individuals without a family history who present with a microsatellite unstable tumor showing loss of MLH 1 expression.
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De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one
Ajay Goel,Thuy Nguyen,Hon Chiu Eastwood Leung,Takeshi Nagasaka,Jennifer Rhees,Erin Hotchkiss,Mildred Arnold,Pia Banerji,Minoru Koi,Chau To Kwok,Deborah Packham,Lara Lipton,C. Richard Boland,Robyn L. Ward,Megan P. Hitchins +14 more
TL;DR: The finding that epimutations can originate on the paternal allele provides important new insights into the mechanism of origin of epimutation, and individuals with mismatch repair–deficient cancers without the BRAF V600E mutation are candidates for germline screening for sequence or methylation changes in MLH1.
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Epigenetic inactivation of a cluster of genes flanking MLH1 in microsatellite-unstable colorectal cancer
Megan P. Hitchins,Vita Ap Lin,Andrew Buckle,Kayfong Cheong,Nimita Halani,Su Ku,Chau-To Kwok,Deborah Packham,Catherine M. Suter,Alan P. Meagher,Clare Stirzaker,Susan J. Clark,Nicholas J. Hawkins,Robyn L. Ward +13 more
TL;DR: Results show that coordinate epigenetic silencing extends across a large chromosomal region encompassing MLH1 in microsatellite-unstable colorectal cancers.
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Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified.
Robyn L. Ward,Jenny Turner,Rachel Williams,Brita Pekarsky,Deborah Packham,M. Velickovic,Alan P. Meagher,Terence O'Connor,Nicholas J. Hawkins +8 more
TL;DR: Routine screening of colorectal cancers by mismatch repair IHC identifies individuals at low risk of relapse, and can prevent unnecessary adjuvant treatments in a significant number of individuals.
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Implementation of novel pyrosequencing assays to screen for common mutations of BRAF and KRAS in a cohort of sporadic colorectal cancers.
TL;DR: These assays proved highly sensitive and specific when applied to clinical specimens, and were applicable to both fresh-frozen and formalin-fixed paraffin-embedded archival tissues, and would serve as a suitable platform for large-scale mutation detection in cancer specimens where the facility for pyrosequencing is available.
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