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Article: A new paradigm of genetic testing for hereditary breast/ovarian cancers
Title | A new paradigm of genetic testing for hereditary breast/ovarian cancers |
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Authors | |
Issue Date | 2016 |
Publisher | Hong 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? |
Abstract | INTRODUCTION: 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 Identifier | http://hdl.handle.net/10722/229504 |
ISSN | 2023 Impact Factor: 3.1 2023 SCImago Journal Rankings: 0.261 |
DC Field | Value | Language |
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dc.contributor.author | Kwong, A | - |
dc.contributor.author | Chen, J | - |
dc.contributor.author | Shin, VY | - |
dc.date.accessioned | 2016-08-23T14:11:33Z | - |
dc.date.available | 2016-08-23T14:11:33Z | - |
dc.date.issued | 2016 | - |
dc.identifier.citation | Hong Kong Medical Journal, 2016, v. 22 n. 2, p. 171-177 | - |
dc.identifier.issn | 1024-2708 | - |
dc.identifier.uri | http://hdl.handle.net/10722/229504 | - |
dc.description.abstract | INTRODUCTION: 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.language | eng | - |
dc.publisher | Hong Kong Academy of Medicine Press. The Journal's web site is located at http://www.hkmj.org/ | - |
dc.relation.ispartof | Hong Kong Medical Journal | - |
dc.rights | Hong Kong Medical Journal. Copyright © Hong Kong Academy of Medicine Press. | - |
dc.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
dc.title | A new paradigm of genetic testing for hereditary breast/ovarian cancers | - |
dc.type | Article | - |
dc.identifier.email | Kwong, A: avakwong@hku.hk | - |
dc.identifier.email | Chen, J: gary0526@hku.hk | - |
dc.identifier.email | Shin, VY: vyshin@hku.hk | - |
dc.identifier.authority | Kwong, A=rp01734 | - |
dc.identifier.authority | Shin, VY=rp02000 | - |
dc.description.nature | published_or_final_version | - |
dc.identifier.doi | 10.12809/hkmj154634 | - |
dc.identifier.scopus | eid_2-s2.0-84963615302 | - |
dc.identifier.hkuros | 261577 | - |
dc.identifier.volume | 22 | - |
dc.identifier.issue | 2 | - |
dc.identifier.spage | 171 | - |
dc.identifier.epage | 177 | - |
dc.publisher.place | Hong Kong | - |
dc.identifier.issnl | 1024-2708 | - |