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Article: Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients

TitleMutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients
Authors
KeywordsHereditary breast cancer
TP53 mutation
Chinese
Breast cancer risk
Issue Date2020
PublisherBioMed Central Ltd. The Journal's web site is located at http://www.biomedcentral.com/bmccancer/
Citation
BMC Cancer, 2020, v. 20, article no. 1053 How to Cite?
AbstractBackground: Germline TP53 mutations are associated with Li-Fraumeni syndrome, a severe and rare hereditary cancer syndrome. Despite the rarity of germline TP53 mutations, the clinical implication for mutation carriers and their families is significant. The risk management of TP53 germline mutation carriers is more stringent than BRCA carriers, and radiotherapy should be avoided when possible. Methods: TP53 gene mutation screening was performed in 2538 Chinese breast cancer patients who tested negative for BRCA mutations. Results: Twenty TP53 mutations were identified with high next-generation sequencing concerning for germline mutations in Chinese breast cancer families. The majorities of the TP53 carriers had early-onset, hormone receptor-positive breast cancer, and had strong family history of cancer. Among all, 11 patients carried a germline mutation and 6 of which were likely de novo germline mutations. In addition, 1 case was suspected to be induced by chemotherapy or radiation, as this patient had no significant family history of cancer and aberrant clonal expansion can commonly include TP53 mutations. Furthermore, we have identified one mosaic LFS case. Two novel mutations (c.524_547dup and c.529_546del) were identified in patients with early-onset. Conclusions: In view of the high lifetime risk of malignancy, identification of patients with germline TP53 mutations are important for clinicians to aid in accurate risk assessment and offer surveillance for patients and their families.
Persistent Identifierhttp://hdl.handle.net/10722/294701
ISSN
2023 Impact Factor: 3.4
2023 SCImago Journal Rankings: 1.087
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorKwong, A-
dc.contributor.authorShin, VY-
dc.contributor.authorHo, CYS-
dc.contributor.authorAu, CH-
dc.contributor.authorSlavin, TP-
dc.contributor.authorWeitzel, JN-
dc.contributor.authorChan, TL-
dc.contributor.authorMa, ESK-
dc.date.accessioned2020-12-08T07:40:38Z-
dc.date.available2020-12-08T07:40:38Z-
dc.date.issued2020-
dc.identifier.citationBMC Cancer, 2020, v. 20, article no. 1053-
dc.identifier.issn1471-2407-
dc.identifier.urihttp://hdl.handle.net/10722/294701-
dc.description.abstractBackground: Germline TP53 mutations are associated with Li-Fraumeni syndrome, a severe and rare hereditary cancer syndrome. Despite the rarity of germline TP53 mutations, the clinical implication for mutation carriers and their families is significant. The risk management of TP53 germline mutation carriers is more stringent than BRCA carriers, and radiotherapy should be avoided when possible. Methods: TP53 gene mutation screening was performed in 2538 Chinese breast cancer patients who tested negative for BRCA mutations. Results: Twenty TP53 mutations were identified with high next-generation sequencing concerning for germline mutations in Chinese breast cancer families. The majorities of the TP53 carriers had early-onset, hormone receptor-positive breast cancer, and had strong family history of cancer. Among all, 11 patients carried a germline mutation and 6 of which were likely de novo germline mutations. In addition, 1 case was suspected to be induced by chemotherapy or radiation, as this patient had no significant family history of cancer and aberrant clonal expansion can commonly include TP53 mutations. Furthermore, we have identified one mosaic LFS case. Two novel mutations (c.524_547dup and c.529_546del) were identified in patients with early-onset. Conclusions: In view of the high lifetime risk of malignancy, identification of patients with germline TP53 mutations are important for clinicians to aid in accurate risk assessment and offer surveillance for patients and their families.-
dc.languageeng-
dc.publisherBioMed Central Ltd. The Journal's web site is located at http://www.biomedcentral.com/bmccancer/-
dc.relation.ispartofBMC Cancer-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectHereditary breast cancer-
dc.subjectTP53 mutation-
dc.subjectChinese-
dc.subjectBreast cancer risk-
dc.titleMutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients-
dc.typeArticle-
dc.identifier.emailKwong, A: avakwong@hku.hk-
dc.identifier.emailShin, VY: vyshin@hku.hk-
dc.identifier.emailHo, CYS: cecihoys@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.doi10.1186/s12885-020-07476-y-
dc.identifier.pmid33138793-
dc.identifier.pmcidPMC7607817-
dc.identifier.scopuseid_2-s2.0-85094911798-
dc.identifier.hkuros320399-
dc.identifier.volume20-
dc.identifier.spagearticle no. 1053-
dc.identifier.epagearticle no. 1053-
dc.identifier.isiWOS:000588308100002-
dc.publisher.placeUnited Kingdom-

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