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Article: Characterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family

TitleCharacterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family
Authors
KeywordsBRCA1
BRCA2
Chinese breast cancer
Variant of unknown significance
VUS
Issue Date2008
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, 2008, v. 7 n. 2, p. 125-133 How to Cite?
AbstractIntroduction: Germline mutations of BRCA1 and BRCA2 account for the majority of hereditary breast cancers, many of which are classified as variants of unknown significance (VUS). We report the identification of a novel BRCA2 variant (c.7806-9T > G) in a Chinese family with multiple breast cancers and document it as a pathogenic mutation. Methods: The proband in this family was diagnosed with breast cancer at age 50 with a strong family history of breast cancer. DNA and RNA were extracted from the blood of the proband and her family, and was used for BRCA gene mutation/deletion screening and RNA splicing analysis. Results: BRCA2 c.7806-9T > G was identified in the proband, which was suggestive of a variant. This change was also found in two sisters of the proband with a history of breast cancer, as well as from the proband's maternal gastric cancer. The only sibling free of breast cancer did not carry the BRCA2 variant, thus demonstrating that the mutation segregates with the clinical phenotype in this family. RNA analysis on the proband blood sample revealed three aberrant splicing variants: c.7806_7874del, c.7806_7976del, and c.7806-8_7806-1ins. The latter causes a frameshift and creates a truncated protein, whilst the other two splicing variants resulted in shorter forms of the protein. Conclusions: The identified BRCA2 c.7806-9T > G [Genbank: DQ889340] was found to be pathogenic, based on aberrant splicing events resulting in the formation of truncated protein products. Thus, better understanding and classification of BRCA variants as neutral or disease causing has important implications for genetic counseling so that appropriate management can be given. © 2007 Springer Science + Business Media B.V.
Persistent Identifierhttp://hdl.handle.net/10722/135560
ISSN
2015 Impact Factor: 2.09
2015 SCImago Journal Rankings: 1.019
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorKwong, Aen_HK
dc.contributor.authorWong, LPen_HK
dc.contributor.authorChan, KYKen_HK
dc.contributor.authorMa, ESKen_HK
dc.contributor.authorKhoo, USen_HK
dc.contributor.authorFord, JMen_HK
dc.date.accessioned2011-07-27T01:37:08Z-
dc.date.available2011-07-27T01:37:08Z-
dc.date.issued2008en_HK
dc.identifier.citationFamilial Cancer, 2008, v. 7 n. 2, p. 125-133en_HK
dc.identifier.issn1389-9600en_HK
dc.identifier.urihttp://hdl.handle.net/10722/135560-
dc.description.abstractIntroduction: Germline mutations of BRCA1 and BRCA2 account for the majority of hereditary breast cancers, many of which are classified as variants of unknown significance (VUS). We report the identification of a novel BRCA2 variant (c.7806-9T > G) in a Chinese family with multiple breast cancers and document it as a pathogenic mutation. Methods: The proband in this family was diagnosed with breast cancer at age 50 with a strong family history of breast cancer. DNA and RNA were extracted from the blood of the proband and her family, and was used for BRCA gene mutation/deletion screening and RNA splicing analysis. Results: BRCA2 c.7806-9T > G was identified in the proband, which was suggestive of a variant. This change was also found in two sisters of the proband with a history of breast cancer, as well as from the proband's maternal gastric cancer. The only sibling free of breast cancer did not carry the BRCA2 variant, thus demonstrating that the mutation segregates with the clinical phenotype in this family. RNA analysis on the proband blood sample revealed three aberrant splicing variants: c.7806_7874del, c.7806_7976del, and c.7806-8_7806-1ins. The latter causes a frameshift and creates a truncated protein, whilst the other two splicing variants resulted in shorter forms of the protein. Conclusions: The identified BRCA2 c.7806-9T > G [Genbank: DQ889340] was found to be pathogenic, based on aberrant splicing events resulting in the formation of truncated protein products. Thus, better understanding and classification of BRCA variants as neutral or disease causing has important implications for genetic counseling so that appropriate management can be given. © 2007 Springer Science + Business Media B.V.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.subjectBRCA1en_HK
dc.subjectBRCA2en_HK
dc.subjectChinese breast canceren_HK
dc.subjectVariant of unknown significanceen_HK
dc.subjectVUSen_HK
dc.subject.meshAsian Continental Ancestry Group - genetics-
dc.subject.meshBreast Neoplasms - genetics - pathology-
dc.subject.meshGenes, BRCA1-
dc.subject.meshGenes, BRCA2-
dc.subject.meshMutation-
dc.titleCharacterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese familyen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1389-9600&volume=7&issue=2&spage=125&epage=133&date=2008&atitle=Characterization+of+the+pathogenic+mechanism+of+a+novel+BRCA2+variant+in+a+Chinese+family-
dc.identifier.emailKwong, A: avakwong@hkucc.hku.hken_HK
dc.identifier.emailChan, KYK: ykchanc@hku.hken_HK
dc.identifier.emailKhoo, US: uskhoo@hku.hken_HK
dc.identifier.authorityKwong, A=rp01734en_HK
dc.identifier.authorityChan, KYK=rp00453en_HK
dc.identifier.authorityKhoo, US=rp00362en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1007/s10689-007-9155-7en_HK
dc.identifier.pmid17657584-
dc.identifier.scopuseid_2-s2.0-45749132611en_HK
dc.identifier.hkuros150946en_US
dc.identifier.hkuros150947-
dc.identifier.hkuros188273-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-45749132611&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume7en_HK
dc.identifier.issue2en_HK
dc.identifier.spage125en_HK
dc.identifier.epage133en_HK
dc.identifier.isiWOS:000256823500003-
dc.publisher.placeNetherlandsen_HK
dc.identifier.scopusauthoridKwong, A=8913654300en_HK
dc.identifier.scopusauthoridWong, LP=24400218000en_HK
dc.identifier.scopusauthoridChan, KYK=7406034195en_HK
dc.identifier.scopusauthoridMa, ESK=7202039934en_HK
dc.identifier.scopusauthoridKhoo, US=7004195799en_HK
dc.identifier.scopusauthoridFord, JM=7402915714en_HK

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