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- Publisher Website: 10.1016/j.mrfmmm.2018.03.006
- Scopus: eid_2-s2.0-85045265715
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Article: Identification of nonsynonymous TP53 mutations in hydatidiform moles
Title | Identification of nonsynonymous TP53 mutations in hydatidiform moles |
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Authors | |
Keywords | Hydatidiform mole Pyrosequencing TP53 mutation |
Issue Date | 2018 |
Publisher | Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/mut |
Citation | Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2018, v. 809, p. 20-23 How to Cite? |
Abstract | Hydatidiform mole (HM), an unusual pregnancy with pure or predominant paternal genetic contribution, is the most common form of gestational trophoblastic disease. Most HM regress after uterine evacuation but some will develop into persistent disease or even frank malignancy. Although p53 is highly expressed in HM, TP53 mutations have rarely been detected in previous studies. Here we screened for specific missense mutations on several TP53 hotspots in 49 HMs using a highly sensitive pyrosequencing approach and revealed the significant existence of such mutations in HM tissues. A particularly high frequency (∼59% of the cases) of p53 inactivating mutation on exon 7 has been detected. Our identification of hitherto unreported TP53 mutations in HM suggests the presence of p53 mutants and reflects the advantages of using pyrosequencing for point mutation detection in clinical samples. Traditional sequencing method may have overlooked such mutations that only occur in a small population of trophobla |
Persistent Identifier | http://hdl.handle.net/10722/263487 |
ISSN | 2022 Impact Factor: 2.3 2023 SCImago Journal Rankings: 0.699 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Chan, KK | - |
dc.contributor.author | Wong, ESY | - |
dc.contributor.author | Wong, GW | - |
dc.contributor.author | Ngan, HYS | - |
dc.contributor.author | Cheung, ANY | - |
dc.date.accessioned | 2018-10-22T07:39:45Z | - |
dc.date.available | 2018-10-22T07:39:45Z | - |
dc.date.issued | 2018 | - |
dc.identifier.citation | Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2018, v. 809, p. 20-23 | - |
dc.identifier.issn | 0027-5107 | - |
dc.identifier.uri | http://hdl.handle.net/10722/263487 | - |
dc.description.abstract | Hydatidiform mole (HM), an unusual pregnancy with pure or predominant paternal genetic contribution, is the most common form of gestational trophoblastic disease. Most HM regress after uterine evacuation but some will develop into persistent disease or even frank malignancy. Although p53 is highly expressed in HM, TP53 mutations have rarely been detected in previous studies. Here we screened for specific missense mutations on several TP53 hotspots in 49 HMs using a highly sensitive pyrosequencing approach and revealed the significant existence of such mutations in HM tissues. A particularly high frequency (∼59% of the cases) of p53 inactivating mutation on exon 7 has been detected. Our identification of hitherto unreported TP53 mutations in HM suggests the presence of p53 mutants and reflects the advantages of using pyrosequencing for point mutation detection in clinical samples. Traditional sequencing method may have overlooked such mutations that only occur in a small population of trophobla | - |
dc.language | eng | - |
dc.publisher | Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/mut | - |
dc.relation.ispartof | Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis | - |
dc.subject | Hydatidiform mole | - |
dc.subject | Pyrosequencing | - |
dc.subject | TP53 mutation | - |
dc.title | Identification of nonsynonymous TP53 mutations in hydatidiform moles | - |
dc.type | Article | - |
dc.identifier.email | Wong, ESY: esywong@hkucc.hku.hk | - |
dc.identifier.email | Wong, GW: wonggw@hkucc.hku.hk | - |
dc.identifier.email | Ngan, HYS: hysngan@hkucc.hku.hk | - |
dc.identifier.email | Cheung, ANY: anycheun@hkucc.hku.hk | - |
dc.identifier.authority | Ngan, HYS=rp00346 | - |
dc.identifier.authority | Cheung, ANY=rp00542 | - |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1016/j.mrfmmm.2018.03.006 | - |
dc.identifier.scopus | eid_2-s2.0-85045265715 | - |
dc.identifier.hkuros | 293620 | - |
dc.identifier.volume | 809 | - |
dc.identifier.spage | 20 | - |
dc.identifier.epage | 23 | - |
dc.identifier.isi | WOS:000432598800004 | - |
dc.publisher.place | Netherlands | - |
dc.identifier.issnl | 0027-5107 | - |