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Article: A case report of germline compound heterozygous mutations in the BRCA1 gene of an ovarian and breast cancer patient

TitleA case report of germline compound heterozygous mutations in the BRCA1 gene of an ovarian and breast cancer patient
Authors
Kwong, AHo, CYSShin, VYAu, CHChan, TLMa, MSK
Keywordshereditary breast cancer
compound heterozygous mutations
Chinese
Fanconi anemia
Issue Date2021
PublisherMolecular Diversity Preservation International. The Journal's web site is located at http://www.mdpi.org/ijms
Citation
International Journal of Molecular Sciences, 2021, Epub 2021-01-17 How to Cite?
DOI: http://dx.doi.org/10.3390/ijms22020889
AbstractThe germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.
Persistent Identifierhttp://hdl.handle.net/10722/295863
ISSN
1661-6596
2011 Impact Factor: 2.598
2020 SCImago Journal Rankings: 1.455
PubMed Central ID
PMC7830606
ISI Accession Number ID
WOS:000611341300001

 

DC FieldValueLanguage
dc.contributor.authorKwong, A-
dc.contributor.authorHo, CYS-
dc.contributor.authorShin, VY-
dc.contributor.authorAu, CH-
dc.contributor.authorChan, TL-
dc.contributor.authorMa, MSK-
dc.date.accessioned2021-02-08T08:15:06Z-
dc.date.available2021-02-08T08:15:06Z-
dc.date.issued2021-
dc.identifier.citationInternational Journal of Molecular Sciences, 2021, Epub 2021-01-17-
dc.identifier.issn1661-6596-
dc.identifier.urihttp://hdl.handle.net/10722/295863-
dc.description.abstractThe germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.-
dc.languageeng-
dc.publisherMolecular Diversity Preservation International. The Journal's web site is located at http://www.mdpi.org/ijms-
dc.relation.ispartofInternational Journal of Molecular Sciences-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjecthereditary breast cancer-
dc.subjectcompound heterozygous mutations-
dc.subjectChinese-
dc.subjectFanconi anemia-
dc.titleA case report of germline compound heterozygous mutations in the BRCA1 gene of an ovarian and breast cancer patient-
dc.typeArticle-
dc.identifier.emailKwong, A: avakwong@hku.hk-
dc.identifier.emailHo, CYS: cecihoys@hku.hk-
dc.identifier.emailShin, VY: vyshin@hku.hk-
dc.identifier.authorityKwong, A=rp01734-
dc.identifier.authorityShin, VY=rp02000-
dc.identifier.authorityChan, TL=rp00418-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.3390/ijms22020889-
dc.identifier.pmid33477375-
dc.identifier.pmcidPMC7830606-
dc.identifier.scopuseid_2-s2.0-85099580703-
dc.identifier.hkuros321175-
dc.identifier.volumeEpub 2021-01-17-
dc.identifier.isiWOS:000611341300001-
dc.publisher.placeSwitzerland-

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