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Abstract P6-08-13: Personalized and cost-effective detection of copy number variants by molecular-barcode next-generation sequencing and long-read nanopore sequencing

Autor: Ava Kwong, Chun H Au, Dona N. Ho, Jiawei Chen, Elaine Yl Wong, Edmond Sk Ma, Cecilia Ys Ho, Tsun Leung Chan, Vivian Y. Shin, Isabella Cheuk, F. B. F. Law, Hextan Ys Ngan, Yvonne Chung

Publikováno v: Cancer Research. 80:P6-08

Background: Germline copy number variants (CNV) of hereditary breast and ovarian cancer genes are a known class of clinically significant mutations. However, failure to detect CNV is a known limitation of Sanger sequencing and conventional amplicon n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::27d10bccfd658936eb203ae330f3583b
https://doi.org/10.1158/1538-7445.sabcs19-p6-08-13

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Redefining prognostication of de novo cytogenetically normal acute myeloid leukemia in young adults

Publikováno v: Blood Cancer Journal, Vol 10, Iss 10, Pp 1-5 (2020)
Blood Cancer Journal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6241620d4bc7ed71663956b29cb40be
https://pubmed.ncbi.nlm.nih.gov/33077814

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Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel

Autor: Ava, Kwong, Vivian Y, Shin, Jiawei, Chen, Isabella W Y, Cheuk, Cecilia Y S, Ho, Chun H, Au, Karen K L, Chan, Hextan Y S, Ngan, Tsun L, Chan, James M, Ford, Edmond S K, Ma

Publikováno v: The Journal of molecular diagnostics : JMD. 22(4)

Differences in the mutation spectrum across ethnicities suggest the importance of identifying genes in addition to common high penetrant genes to estimate the associated breast cancer risk in China. A total of 1338 high-risk breast cancer patients wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::65c2d1a7568895caf7c3a3d62bb8538c
https://pubmed.ncbi.nlm.nih.gov/32068069

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Distinct mutation spectrum, clinical outcome and therapeutic responses of typical complex/monosomy karyotype acute myeloid leukemia carrying TP53 mutations

Publikováno v: American journal of hematology. 94(6)

The present study aimed to define a subtype of complex/monosomal karyotype (CK/MK) acute myeloid leukemia (AML) by its distinct clinical features, p53 signaling and responses to p53 targeting agents. Ninety-eight young adults (range: 21-60 years; med

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3173f3ec7128501001349b33ec4def1
https://pubmed.ncbi.nlm.nih.gov/30900772

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Abstract P2-09-20: Evaluation on the mutation screening by next-generation sequencing in hereditary breast and ovarian cancer: Implementation of recurrent mutation panel

Autor: G Choy, Ava Kwong, Tsun Leung Chan, Fbf Law, Dona N. Ho, BK Ip, AT Wong, RM To, SS Lau, Esk Ma, JM Ford, Vivian Y. Shin, Chun H Au

Publikováno v: Cancer Research. 76:P2-09

Background: Hereditary disposition accounts for 10-15% in breast cancers and 20-25% in ovarian cancers, in which 5-10% of women have genomic alteration in breast cancer predisposition genes, BRCA1 and BRCA2, while the rest are likely due to less pene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4298c169dc2695e6db70569d41ab9f0b
https://doi.org/10.1158/1538-7445.sabcs15-p2-09-20

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Abstract P2-07-03: High-throughput germline mutation screening for hereditary breast cancer in southern Chinese patients by massively parallel DNA sequencing

Autor: Dona N. Ho, BK Ip, AT Wong, Esk Ma, Tsun Leung Chan, F. B. F. Law, Chun H Au, Vivian Y. Shin, Ava Kwong

Publikováno v: Cancer Research. 73:P2-07

Introduction: Breast cancer is the most common malignancy and 3rd leading cause of deaths among the female population in Hong Kong. Since the establishment of The Hong Kong Hereditary Breast Cancer Family Registry in 2007, 1344 patients with breast a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3bf4c85ba86da8ff7f541f536a09d7d8
https://doi.org/10.1158/0008-5472.sabcs13-p2-07-03

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Germline RECQL mutations in high risk Chinese breast cancer patients

Autor: Ava Kwong, Vivian Y. Shin, Isabella Cheuk, Dona N. Ho, Edmond S. K. Ma, Tsun Leung Chan, Steven A. Narod, Chun H Au, Jiawei Chen, Mohammad R. Akbari

Publikováno v: Breast cancer research and treatment. 157(2)

Recently, RECQL was reported as a new breast cancer susceptibility gene. RECQL belongs to the RECQ DNA helicase family which unwinds double strand DNA and involved in the DNA replication stress response, telomere maintenance and DNA repair. RECQL def

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca72ed861506a137d3fc5e19db85f67b
https://pubmed.ncbi.nlm.nih.gov/27125668

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Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel

Autor: Edmond S. K. Ma, Ava Kwong, Chun H Au, Silvia S. Lau, Fian B.F. Law, Dona N. Ho, Bui K. Ip, Tsun Leung Chan, Rene M.Y. To, James M. Ford, Anthony T.C. Wong, Vivian Y. Shin, Gigi Choy

Publikováno v: The Journal of molecular diagnostics : JMD. 18(4)

Mutation in BRCA1/BRCA2 genes accounts for 20% of familial breast cancers, 5% to 10% of which may be due to other less penetrant genes which are still incompletely studied. Herein, a four-gene panel was used to examine the prevalence of BRCA1, BRCA2,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef5ad1f486db33a6cf6b4421a7ae3b1e
https://pubmed.ncbi.nlm.nih.gov/27157322

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