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Article: A new paradigm of genetic testing for hereditary breast/ovarian cancers

TitleA new paradigm of genetic testing for hereditary breast/ovarian cancers
Authors
Issue Date2016
PublisherHong Kong Academy of Medicine Press. The Journal's web site is located at http://www.hkmj.org/
Citation
Hong Kong Medical Journal, 2016, v. 22 n. 2, p. 171-177 How to Cite?
AbstractINTRODUCTION: Genetic risk factors and family history play an important role in breast cancer development. This review aimed to summarise the current genetic testing approach to hereditary breast/ovarian cancer. METHODS: A systematic literature review was performed by searching the PubMed database. Publications available online until January 2015 that addressed issues related to hereditary breast/ovarian cancer genetic counselling/testing were selected. The search terms used were 'familial breast/ovarian cancer', 'susceptibility genes', 'genetic counselling', and 'genetic testing'. The data extracted for this review were analysed by the authors, with a focus on genetic testing for hereditary breast/ovarian cancer. RESULTS: Although a greater proportion of inherited breast/ovarian cancers are due to the BRCA1 and BRCA2 mutations, a number of new genes have emerged as susceptibility candidates, including rare germline mutations in high penetrance genes, such as TP53 and PTEN, and more frequent mutations in moderate/low penetrance genes, such as PALB2, CHEK2 and ATM. Multi-gene testing, if used appropriately, is generally a more cost- and time-effective method than single-gene testing, and may increase the number of patients who can be offered personal surveillance, risk-reduction options, and testing of high-risk family members. CONCLUSIONS: Recent advances in molecular genetics testing have identified a number of susceptibility genes related to hereditary breast and/or ovarian cancers other than BRCA1 and BRCA2. The introduction of multi-gene testing for hereditary cancer has revolutionised the clinical management of high-risk patients and their families. Individuals with hereditary breast/ovarian cancer will benefit from genetic counselling/testing.
Persistent Identifierhttp://hdl.handle.net/10722/229504
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279

 

DC FieldValueLanguage
dc.contributor.authorKwong, A-
dc.contributor.authorChen, J-
dc.contributor.authorShin, VY-
dc.date.accessioned2016-08-23T14:11:33Z-
dc.date.available2016-08-23T14:11:33Z-
dc.date.issued2016-
dc.identifier.citationHong Kong Medical Journal, 2016, v. 22 n. 2, p. 171-177-
dc.identifier.issn1024-2708-
dc.identifier.urihttp://hdl.handle.net/10722/229504-
dc.description.abstractINTRODUCTION: Genetic risk factors and family history play an important role in breast cancer development. This review aimed to summarise the current genetic testing approach to hereditary breast/ovarian cancer. METHODS: A systematic literature review was performed by searching the PubMed database. Publications available online until January 2015 that addressed issues related to hereditary breast/ovarian cancer genetic counselling/testing were selected. The search terms used were 'familial breast/ovarian cancer', 'susceptibility genes', 'genetic counselling', and 'genetic testing'. The data extracted for this review were analysed by the authors, with a focus on genetic testing for hereditary breast/ovarian cancer. RESULTS: Although a greater proportion of inherited breast/ovarian cancers are due to the BRCA1 and BRCA2 mutations, a number of new genes have emerged as susceptibility candidates, including rare germline mutations in high penetrance genes, such as TP53 and PTEN, and more frequent mutations in moderate/low penetrance genes, such as PALB2, CHEK2 and ATM. Multi-gene testing, if used appropriately, is generally a more cost- and time-effective method than single-gene testing, and may increase the number of patients who can be offered personal surveillance, risk-reduction options, and testing of high-risk family members. CONCLUSIONS: Recent advances in molecular genetics testing have identified a number of susceptibility genes related to hereditary breast and/or ovarian cancers other than BRCA1 and BRCA2. The introduction of multi-gene testing for hereditary cancer has revolutionised the clinical management of high-risk patients and their families. Individuals with hereditary breast/ovarian cancer will benefit from genetic counselling/testing.-
dc.languageeng-
dc.publisherHong Kong Academy of Medicine Press. The Journal's web site is located at http://www.hkmj.org/-
dc.relation.ispartofHong Kong Medical Journal-
dc.rightsHong Kong Medical Journal. Copyright © Hong Kong Academy of Medicine Press.-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleA new paradigm of genetic testing for hereditary breast/ovarian cancers-
dc.typeArticle-
dc.identifier.emailKwong, A: avakwong@hku.hk-
dc.identifier.emailChen, J: gary0526@hku.hk-
dc.identifier.emailShin, VY: vyshin@hku.hk-
dc.identifier.authorityKwong, A=rp01734-
dc.identifier.authorityShin, VY=rp02000-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.12809/hkmj154634-
dc.identifier.hkuros261577-
dc.identifier.volume22-
dc.identifier.issue2-
dc.identifier.spage171-
dc.identifier.epage177-
dc.publisher.placeHong Kong-

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