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Article: A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer

TitleA novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer
Authors
KeywordsBRCA1 gene
Breast cancer
De novo mutation
Early onset
Issue Date2011
PublisherSpringer Verlag Dordrecht. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=1389-9600
Citation
Familial Cancer, 2011, v. 10 n. 2, p. 233-237 How to Cite?
AbstractGermline mutations in the two breast cancer susceptibility genes, BRCA1 and BRCA2 account for a significant portion of hereditary breast/ovarian cancer. De novo mutations such as multiple exon deletion are rarely occurred in BRCA1 and BRCA2. During our mutation screening for BRCA1/2 genes to Chinese women with risk factors for hereditary breast/ovarian cancer, we identified a novel germline mutation, consisting of a deletion from exons 1 to 12 in BRCA1 gene, in a patient diagnosed with early onset triple negative breast cancer with no family history of cancer. None of her parents carried the mutation and molecular analysis showed that this novel de novo germline mutation resulted in down-regulation of BRCA1 gene expression. © 2011 The Author(s).
Persistent Identifierhttp://hdl.handle.net/10722/139760
ISSN
2015 Impact Factor: 2.09
2015 SCImago Journal Rankings: 1.019
PubMed Central ID
ISI Accession Number ID
Funding AgencyGrant Number
Dr Ellen Li Charitable Foundation
Kerry Group Kuok Foundation
Funding Information:

We sincerely thank to Dr Ellen Li Charitable Foundation and Kerry Group Kuok Foundation for their support. We also like to thank Dr Dacita Suen, Dr Catherine Choi and Ms. Wong Ling for helping in patient recruitment.

References

 

DC FieldValueLanguage
dc.contributor.authorKwong, Aen_HK
dc.contributor.authorNg, EKOen_HK
dc.contributor.authorTang, EYHen_HK
dc.contributor.authorWong, CLPen_HK
dc.contributor.authorLaw, FBFen_HK
dc.contributor.authorLeung, CPHen_HK
dc.contributor.authorChan, Aen_HK
dc.contributor.authorCheung, MTen_HK
dc.contributor.authorTo, MYen_HK
dc.contributor.authorMa, ESKen_HK
dc.contributor.authorWest, DWen_HK
dc.contributor.authorFord, JMen_HK
dc.date.accessioned2011-09-23T05:55:22Z-
dc.date.available2011-09-23T05:55:22Z-
dc.date.issued2011en_HK
dc.identifier.citationFamilial Cancer, 2011, v. 10 n. 2, p. 233-237en_HK
dc.identifier.issn1389-9600en_HK
dc.identifier.urihttp://hdl.handle.net/10722/139760-
dc.description.abstractGermline mutations in the two breast cancer susceptibility genes, BRCA1 and BRCA2 account for a significant portion of hereditary breast/ovarian cancer. De novo mutations such as multiple exon deletion are rarely occurred in BRCA1 and BRCA2. During our mutation screening for BRCA1/2 genes to Chinese women with risk factors for hereditary breast/ovarian cancer, we identified a novel germline mutation, consisting of a deletion from exons 1 to 12 in BRCA1 gene, in a patient diagnosed with early onset triple negative breast cancer with no family history of cancer. None of her parents carried the mutation and molecular analysis showed that this novel de novo germline mutation resulted in down-regulation of BRCA1 gene expression. © 2011 The Author(s).en_HK
dc.languageengen_US
dc.publisherSpringer Verlag Dordrecht. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=1389-9600en_HK
dc.relation.ispartofFamilial Canceren_HK
dc.rightsThe original publication is available at www.springerlink.com-
dc.rightsThe Author(s)-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectBRCA1 geneen_HK
dc.subjectBreast canceren_HK
dc.subjectDe novo mutationen_HK
dc.subjectEarly onseten_HK
dc.subject.meshBreast Neoplasms - genetics-
dc.subject.meshChina-
dc.subject.meshGenes, BRCA1-
dc.subject.meshGenes, BRCA2-
dc.subject.meshMutation-
dc.titleA novel de novo BRCA1 mutation in a Chinese woman with early onset breast canceren_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1389-9600&volume=10&issue=2&spage=233&epage=237&date=2011&atitle=A+novel+de+novo+BRCA1+mutation+in+a+Chinese+woman+with+early+onset+breast+cancer-
dc.identifier.emailKwong, A: avakwong@hkucc.hku.hken_HK
dc.identifier.emailNg, EKO: ngko@hku.hken_HK
dc.identifier.authorityKwong, A=rp01734en_HK
dc.identifier.authorityNg, EKO=rp01364en_HK
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1007/s10689-011-9429-yen_HK
dc.identifier.pmid21404118-
dc.identifier.pmcidPMC3100488-
dc.identifier.scopuseid_2-s2.0-79958123875en_HK
dc.identifier.hkuros194563en_US
dc.identifier.hkuros184861-
dc.identifier.hkuros184862-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79958123875&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume10en_HK
dc.identifier.issue2en_HK
dc.identifier.spage233en_HK
dc.identifier.epage237en_HK
dc.identifier.isiWOS:000290937500008-
dc.publisher.placeNetherlandsen_HK
dc.identifier.scopusauthoridKwong, A=8913654300en_HK
dc.identifier.scopusauthoridNg, EKO=21135553700en_HK
dc.identifier.scopusauthoridTang, EYH=53364350800en_HK
dc.identifier.scopusauthoridWong, CLP=8987839600en_HK
dc.identifier.scopusauthoridLaw, FBF=35181537900en_HK
dc.identifier.scopusauthoridLeung, CPH=41761959600en_HK
dc.identifier.scopusauthoridChan, A=7403167953en_HK
dc.identifier.scopusauthoridCheung, MT=36545766400en_HK
dc.identifier.scopusauthoridTo, MY=24315130500en_HK
dc.identifier.scopusauthoridMa, ESK=7202039934en_HK
dc.identifier.scopusauthoridWest, DW=7401998438en_HK
dc.identifier.scopusauthoridFord, JM=7402915714en_HK
dc.identifier.citeulike9006247-

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