Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Sock Hoai Chan"'
Autor:
Arun Mouli Kolinjivadi, Siao Ting Chong, Ramveer Choudhary, Haresh Sankar, Ee Ling Chew, Claresta Yeo, Sock Hoai Chan, Joanne Ngeow
Publikováno v:
Human Molecular Genetics. 32:1401-1409
Monoallelic or biallelic RAD51C germline mutations results in chromosome instability disorders such as fanconi anemia (FA) and cancers. The bona fide function of RAD51C is to assist RAD51 nucleoprotein filament onto single strand DNA to complete Homo
Autor:
Zewen Zhang, Nur Diana Binte Ishak, Frances Victoria Fajardo Que, Zi Yang Chua, Sock Hoai Chan, Jianbang Chiang, Joanne Ngeow Yuen Yie
Background Although Singapore is one of the highest vaccinated countries in the world, vaccine hesitancy remains in a subpopulation, including individuals with cancer predisposition syndromes. At the Cancer Genetics Service National Cancer Centre Sin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb9adfb1c44bc6dfa0c52dff658610c7
https://doi.org/10.21203/rs.3.rs-1749535/v1
https://doi.org/10.21203/rs.3.rs-1749535/v1
Autor:
Sonia Davila, Sylvia Kam, Saumya Shekhar Jamuar, Khung Keong Yeo, Jyn Ling Kuan, Nicolas Bertin, Patrick Tan, Steve Rozen, Bin Tean Teh, Geoffrey S. Ginsburg, Jing Xian Teo, Cheng Xi Yang, Koei Wan Tham, Stuart A. Cook, Lori A. Orlando, Weng Khong Lim, Yasmin Bylstra, Sock Hoai Chan, R. Ryanne Wu
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-11 (2021)
Genome Medicine
Genome Medicine
Background Family history has traditionally been an essential part of clinical care to assess health risks. However, declining sequencing costs have precipitated a shift towards genomics-first approaches in population screening programs rendering the
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-9 (2021)
Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice
AlthoughCDKN2Ais well-known as a susceptibility gene for melanoma and pancreatic cancer, germline variants have also been anecdotally associated with a broader range of neoplasms including neural system tumors, head and neck squamous cell carcinomas,
Multiple neoplasia in a patient with Gitelman syndrome harboring germline monoallelic MUTYH mutation
Autor:
Li Shao-Tzu, Joanne Ngeow, Sock Hoai Chan, Arnoud Boot, Min-Hoe Chew, Nur Diana Binte Ishak, Ming Ren Toh, Jason Yongsheng Chan, Arun Mouli Kolinjivadi, Siao Ting Chong, Elizabeth Lee
Publikováno v:
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-6 (2020)
Gitelman syndrome is a rare, recessively inherited disease characterized by chronic hypokalemia and hypomagnesemia as a result of defective electrolyte co-transport at the level of the distal convoluted tubule of the kidney. Here, we present the firs
Autor:
Felicia Hui Xian Chin, Joanne Ngeow, Tarryn Shaw, Wen Yee Chay, Shao Tzu Li, Eliza Courtney, Sock Hoai Chan, Diana Ishak, Wai Loong Wong, Adele Wong, Khurshid Merchant
Publikováno v:
Familial cancer. 19(4)
Neurofibromatosis type 1 (NF1) is a multisystem disorder caused by germline heterozygous NF1 loss-of-function variants. The NF1 gene encodes neurofibromin, a RAS GTPase-activating protein, which functions by down-regulating RAS/RAF/MAPK-signalling pa
Autor:
Amélie Rodrigue, Jean-Yves Masson, Eliza Courtney, Nur Diana Binte Ishak, Chen Ee Low, Siao Ting Chong, Joanne Ngeow, Sock Hoai Chan, Arun Mouli Kolinjivadi, Ming Ren Toh
Publikováno v:
Familial cancer. 19(2)
The PALB2 protein is essential to RAD51-mediated homologous recombination (HR) repair. Germline monoallelic PALB2 pathogenic variants confer significant risks for breast cancer. However, the majority of PALB2 variants remain classified as variants of
Autor:
Sock Hoai Chan, Hong Lee Heng, Po-Hsien Lee, Siao Ting Chong, Bin Tean Teh, Joanne Ngeow, Jing Han Hong, Jing Tan, Nur Diana Binte Ishak
Publikováno v:
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-10 (2020)
NPJ Genomic Medicine
NPJ Genomic Medicine
We have identified six patients harbouring distinct germline BAP1 mutations. In this study, we functionally characterise known BAP1 pathogenic and likely benign germline variants out of these six patients to aid in the evaluation and classification o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d68896387808b07937a2bb57a3bd279b
https://hdl.handle.net/10356/146677
https://hdl.handle.net/10356/146677
Autor:
Joanne Ngeow, Yanni Chen, Khee Chee Soo, Ke Zhou, Sock Hoai Chan, Soon Thye Lim, Marie Met-Domestici, John Carson Allen, Shao-Tzu Li, Nur Diana Binte Ishak, Yee Pin Tan, Jeanette Yuen
Publikováno v:
Journal of Medical Genetics. 54:254-259
Purpose Previous reports cite high costs of clinical cancer genetic testing as main barriers to patient9s willingness to test. We report findings of a pilot study that evaluates how different subsidy schemes impact genetic testing uptake and total co
Autor:
Michaela Su-Fern Seng, Prasad Iyer, Mei Yoke Chan, Kenneth Tou En Chang, Nur Diana Binte Ishak, Joanne Ngeow, Tarryn Shaw, Enrica Ee Kar Tan, Jing Xian Teo, Weng Khong Lim, Sheng Hui Tan, Shao-Tzu Li, Ah Moy Tan, Yong Chen, Sharon Y.Y. Low, Sock Hoai Chan, Amos Hong Pheng Loh, Winston Chew, Shui Yen Soh
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-8 (2018)
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-8 (2018)
Assessment of cancer predisposition syndromes (CPS) in childhood tumours is challenging to paediatric oncologists due to inconsistent recognizable clinical phenotypes and family histories, especially in cohorts with unknown prevalence of germline mut