Paediatrics Institute

Kuala Lumpur, Malaysia

Paediatrics Institute

Kuala Lumpur, Malaysia
SEARCH FILTERS
Time filter
Source Type

Choong S.S.,University of Malaya | Latiff Z.A.,National University of Malaysia | Mohamed M.,Paediatrics Institute | Lim L.L.W.,University of Malaya | And 5 more authors.
Clinical Genetics | Year: 2012

Li-Fraumeni syndrome (LFS) is a highly penetrant, autosomal dominant disorder where affected individuals carry a 50% risk of developing cancer before 30 years of age. It is most commonly associated with mutations in the tumour suppressor gene, TP53. Adrenocortical carcinoma (ACC) is a very rare paediatric cancer, and up to 80% of affected children are found to carry germline TP53 mutations. Hence, we propose using childhood ACC incidence as selection criteria for referral for TP53 mutation testing, independent of familial cancer history. Under the auspices of the Malaysian Society of Paediatric Haematology-Oncology, four eligible children diagnosed with ACC over a 30-month study period were referred for mutation testing. Three had a germline TP53 mutation. Subsequent TP53 testing in relatives showed two inherited mutations and one de novo mutation. These findings strongly support paediatric ACC as a useful sentinel cancer for initiating a germline TP53/LFS detection programme, particularly in countries where the lack of structured oncogenetic practice precludes the identification of families with LFS features. © 2012 John Wiley & Sons A/S.


Ariffin H.,University of Malaya | Chan A.S.L.,University of Malaya | Oh L.,University of Malaya | Abd-Ghafar S.,University of Malaya | And 8 more authors.
Clinical Genetics | Year: 2015

Type of cancer and age of onset in individuals with inherited aberrations in the tumour suppressor gene TP53 are variable, possibly influenced by genetic modifiers and different environmental exposure. Since 2009, the modified Chompret criteria (MCC) have been used to identify individuals for TP53 mutation screening. Using the TP53 mutation database maintained by the International Agency for Research on Cancer (IARC), we investigated if the MCC, mainly developed for a Caucasian population, was also applicable in Asia. We identified several differences in Asian families compared with similar Caucasian cohorts, suggesting that identification and management of Li-Fraumeni syndrome in Asia do not completely mirror that of North America and Western Europe. Early gastric cancer (<40years) may be considered a new addition to the MCC especially for Asian families. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


PubMed | Sarawak General Hospital, Sultan Ismail Hospital, Cancer Research Initiatives Foundation, Paediatrics Institute and 2 more.
Type: Journal Article | Journal: Clinical genetics | Year: 2015

Type of cancer and age of onset in individuals with inherited aberrations in the tumour suppressor gene TP53 are variable, possibly influenced by genetic modifiers and different environmental exposure. Since 2009, the modified Chompret criteria (MCC) have been used to identify individuals for TP53 mutation screening. Using the TP53 mutation database maintained by the International Agency for Research on Cancer (IARC), we investigated if the MCC, mainly developed for a Caucasian population, was also applicable in Asia. We identified several differences in Asian families compared with similar Caucasian cohorts, suggesting that identification and management of Li-Fraumeni syndrome in Asia do not completely mirror that of North America and Western Europe. Early gastric cancer (<40years) may be considered a new addition to the MCC especially for Asian families.

Loading Paediatrics Institute collaborators
Loading Paediatrics Institute collaborators