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Article: Germline PALB2 mutation in high-risk Chinese breast and/or ovarian cancer patients

TitleGermline PALB2 mutation in high-risk Chinese breast and/or ovarian cancer patients
Authors
KeywordsHereditary breast cancer
PALB2 mutation
Chinese
Breast cancer risk
Issue Date2021
PublisherMDPI AG. The Journal's web site is located at http://www.mdpi.com/journal/cancers/
Citation
Cancers, 2021, v. 13 n. 16, article no. 4195 How to Cite?
AbstractThe prevalence of the PALB2 mutation in breast cancer varies across different ethnic groups; hence, it is of intense interest to evaluate the cancer risk and clinical association of the PALB2 mutation in Chinese breast and/or ovarian cancer patients. We performed sequencing with a 6-gene test panel (BRCA1, BRCA2, TP53, PTEN, PALB2, and CDH1) to identify the prevalence of the PALB2 germline mutation among 2631 patients with breast and/or ovarian cancer. In this cohort, 39 mutations were identified with 24 types of mutation variants, where the majority of the mutations were frame-shift mutations and resulted in early termination. We also identified seven novel PALB2 mutations. Most of the PALB2 mutation carriers had breast cancer (36, 92.3%) and were more likely to have family history of breast cancer (19, 48.7%). The majority of the breast tumors were invasive ductal carcinoma (NOS type) (34, 81.0%) and hormonal positive (ER: 32, 84.2%; PR: 23, 60.5%). Pathogenic mutations of PALB2 were found in 39 probands with a mutation frequency of 1.6% and 1% in breast cancer and ovarian cancer patients, respectively. PALB2 mutation carriers were more likely have hormonal positive tumors and were likely to have familial aggregation of breast cancer.
Persistent Identifierhttp://hdl.handle.net/10722/304190
ISSN
2023 Impact Factor: 4.5
2023 SCImago Journal Rankings: 1.391
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorKwong, A-
dc.contributor.authorShin, VY-
dc.contributor.authorHo, CYS-
dc.contributor.authorKhalid, A-
dc.contributor.authorAu, CH-
dc.contributor.authorChan, KKL-
dc.contributor.authorNgan, HYS-
dc.contributor.authorChan, TL-
dc.contributor.authorMa, ESK-
dc.date.accessioned2021-09-23T08:56:29Z-
dc.date.available2021-09-23T08:56:29Z-
dc.date.issued2021-
dc.identifier.citationCancers, 2021, v. 13 n. 16, article no. 4195-
dc.identifier.issn2072-6694-
dc.identifier.urihttp://hdl.handle.net/10722/304190-
dc.description.abstractThe prevalence of the PALB2 mutation in breast cancer varies across different ethnic groups; hence, it is of intense interest to evaluate the cancer risk and clinical association of the PALB2 mutation in Chinese breast and/or ovarian cancer patients. We performed sequencing with a 6-gene test panel (BRCA1, BRCA2, TP53, PTEN, PALB2, and CDH1) to identify the prevalence of the PALB2 germline mutation among 2631 patients with breast and/or ovarian cancer. In this cohort, 39 mutations were identified with 24 types of mutation variants, where the majority of the mutations were frame-shift mutations and resulted in early termination. We also identified seven novel PALB2 mutations. Most of the PALB2 mutation carriers had breast cancer (36, 92.3%) and were more likely to have family history of breast cancer (19, 48.7%). The majority of the breast tumors were invasive ductal carcinoma (NOS type) (34, 81.0%) and hormonal positive (ER: 32, 84.2%; PR: 23, 60.5%). Pathogenic mutations of PALB2 were found in 39 probands with a mutation frequency of 1.6% and 1% in breast cancer and ovarian cancer patients, respectively. PALB2 mutation carriers were more likely have hormonal positive tumors and were likely to have familial aggregation of breast cancer.-
dc.languageeng-
dc.publisherMDPI AG. The Journal's web site is located at http://www.mdpi.com/journal/cancers/-
dc.relation.ispartofCancers-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectHereditary breast cancer-
dc.subjectPALB2 mutation-
dc.subjectChinese-
dc.subjectBreast cancer risk-
dc.titleGermline PALB2 mutation in high-risk Chinese breast and/or ovarian cancer patients-
dc.typeArticle-
dc.identifier.emailKwong, A: avakwong@hku.hk-
dc.identifier.emailShin, VY: vyshin@hku.hk-
dc.identifier.emailChan, KKL: kklchan@hkucc.hku.hk-
dc.identifier.emailNgan, HYS: hysngan@hkucc.hku.hk-
dc.identifier.authorityKwong, A=rp01734-
dc.identifier.authorityShin, VY=rp02000-
dc.identifier.authorityChan, KKL=rp00499-
dc.identifier.authorityNgan, HYS=rp00346-
dc.identifier.authorityChan, TL=rp00418-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.3390/cancers13164195-
dc.identifier.pmid34439348-
dc.identifier.pmcidPMC8394494-
dc.identifier.scopuseid_2-s2.0-85113170547-
dc.identifier.hkuros325084-
dc.identifier.volume13-
dc.identifier.issue16-
dc.identifier.spagearticle no. 4195-
dc.identifier.epagearticle no. 4195-
dc.identifier.isiWOS:000688809200001-
dc.publisher.placeSwitzerland-

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