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Conference Paper: Somatic mutation profiling in BRCA-negative breast cancer patients

TitleSomatic mutation profiling in BRCA-negative breast cancer patients
Authors
Issue Date2020
PublisherWiley-Blackwell Publishing Asia. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1744-1633
Citation
The Royal College of Surgeons of Edinburgh and The College of Surgeons of Hong Kong (RCSEd/CSHK) Conjoint Virtual Scientific Congress 2020: Towards Personalised Surgery, Hong Kong, 19 September 2020. In Surgical Practice, 2020, v. 24 n. Suppl 1, p. 6, abstract no. FP8 How to Cite?
AbstractIntroduction: Genetic testing lies at the heart of personalized oncological treatment, promising the potential for targeted therapies that complement and enhance surgical therapies of tumors with specific mutation profiles. Germline BRCA mutations are commonly targeted by BRCA‐pathway inhibitors, but contribute to only approximately 10% of breast cancers in Hong Kong. Somatic tumor mutations can also serve as potential targets for molecular inhibitors. The somatic mutation landscape of breast cancers must hence be properly understood to identify further therapeutic strategies and improve treatment outcomes. Aim: To identify the somatic mutation profile of non‐hereditary breast cancers in Hong Kong Methods: Multigene sequencing of 93 previously identified predisposition genes were performed on breast cancers without germline mutations or prior chemotherapy exposure. Mutations were classified based on predicted clinical significance according to a four‐tier system defined by international guidelines. Results: Three hundred and sixty nine somatic mutations in 67 predisposition genes among 108 breast cancers were identified. Six tumors were devoid of any somatic mutations. The most frequently mutated pathogenic or likely‐pathogenic genes were PIK3CA (28.6%), TP53 (16.9%), MAP3K1 (14.3%), GATA3 (14.3%) and PTEN (5.2%). Only six tumors were found to carry BRCA mutations. Conclusions: This study identified important somatic mutations among breast cancers in Hong Kong, suggesting the efficacy of already available therapies, such as PIK3 inhibitors and TP53 activators, for a significant cohort of our breast cancer patients. Personalized targeted therapies serve as important adjuvants to surgical treatment of breast malignancies, and hence should be more widely offered to breast cancer patients in Hong Kong.
DescriptionOral Presentation - Free Paper - no. FP8
Persistent Identifierhttp://hdl.handle.net/10722/297292
ISSN
2023 Impact Factor: 0.3
2023 SCImago Journal Rankings: 0.152

 

DC FieldValueLanguage
dc.contributor.authorYu, WYS-
dc.contributor.authorCheuk, WYI-
dc.contributor.authorShin, VY-
dc.contributor.authorHo, YSC-
dc.contributor.authorAu, CH-
dc.contributor.authorHo, D-
dc.contributor.authorWong, E-
dc.contributor.authorChen, J-
dc.contributor.authorChan, K-
dc.contributor.authorNgan, HYS-
dc.contributor.authorChan, TL-
dc.contributor.authorMa, E-
dc.contributor.authorKwong, A-
dc.date.accessioned2021-03-08T07:16:54Z-
dc.date.available2021-03-08T07:16:54Z-
dc.date.issued2020-
dc.identifier.citationThe Royal College of Surgeons of Edinburgh and The College of Surgeons of Hong Kong (RCSEd/CSHK) Conjoint Virtual Scientific Congress 2020: Towards Personalised Surgery, Hong Kong, 19 September 2020. In Surgical Practice, 2020, v. 24 n. Suppl 1, p. 6, abstract no. FP8-
dc.identifier.issn1744-1625-
dc.identifier.urihttp://hdl.handle.net/10722/297292-
dc.descriptionOral Presentation - Free Paper - no. FP8-
dc.description.abstractIntroduction: Genetic testing lies at the heart of personalized oncological treatment, promising the potential for targeted therapies that complement and enhance surgical therapies of tumors with specific mutation profiles. Germline BRCA mutations are commonly targeted by BRCA‐pathway inhibitors, but contribute to only approximately 10% of breast cancers in Hong Kong. Somatic tumor mutations can also serve as potential targets for molecular inhibitors. The somatic mutation landscape of breast cancers must hence be properly understood to identify further therapeutic strategies and improve treatment outcomes. Aim: To identify the somatic mutation profile of non‐hereditary breast cancers in Hong Kong Methods: Multigene sequencing of 93 previously identified predisposition genes were performed on breast cancers without germline mutations or prior chemotherapy exposure. Mutations were classified based on predicted clinical significance according to a four‐tier system defined by international guidelines. Results: Three hundred and sixty nine somatic mutations in 67 predisposition genes among 108 breast cancers were identified. Six tumors were devoid of any somatic mutations. The most frequently mutated pathogenic or likely‐pathogenic genes were PIK3CA (28.6%), TP53 (16.9%), MAP3K1 (14.3%), GATA3 (14.3%) and PTEN (5.2%). Only six tumors were found to carry BRCA mutations. Conclusions: This study identified important somatic mutations among breast cancers in Hong Kong, suggesting the efficacy of already available therapies, such as PIK3 inhibitors and TP53 activators, for a significant cohort of our breast cancer patients. Personalized targeted therapies serve as important adjuvants to surgical treatment of breast malignancies, and hence should be more widely offered to breast cancer patients in Hong Kong.-
dc.languageeng-
dc.publisherWiley-Blackwell Publishing Asia. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1744-1633-
dc.relation.ispartofSurgical Practice-
dc.relation.ispartofRCSEd/CSHK Conjoint Virtual Scientific Congress 2020-
dc.titleSomatic mutation profiling in BRCA-negative breast cancer patients-
dc.typeConference_Paper-
dc.identifier.emailShin, VY: vyshin@hku.hk-
dc.identifier.emailNgan, HYS: hysngan@hkucc.hku.hk-
dc.identifier.emailKwong, A: avakwong@hku.hk-
dc.identifier.authorityShin, VY=rp02000-
dc.identifier.authorityNgan, HYS=rp00346-
dc.identifier.authorityChan, TL=rp00418-
dc.identifier.authorityKwong, A=rp01734-
dc.description.natureabstract-
dc.identifier.hkuros321629-
dc.identifier.volume24-
dc.identifier.issueSuppl 1-
dc.identifier.spage6, abstract no. FP8-
dc.identifier.epage6, abstract no. FP8-
dc.publisher.placeAustralia-
dc.identifier.partofdoi10.1111/1744-1633.12446-
dc.identifier.issnl1744-1625-

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