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Conference Paper: Identification of germline mutation by 30 gene sequencing and clinical characteristics of Chinese with hereditary ovarian cancer

TitleIdentification of germline mutation by 30 gene sequencing and clinical characteristics of Chinese with hereditary ovarian cancer
Authors
Issue Date2018
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.ijgc.net/
Citation
The 17th Biennial Meeting of the International Gynecologic Cancer Society (IGCS 2018), Kyoto, Japan, 14-16 September 2018. In International journal of Gynecological Cancer, 2018, v. 28 n. Suppl. 2, p. 32 How to Cite?
AbstractBackground and Aims: BRCA mutations attributed to 10-15% of hereditary ovarian cancers and are routinely tested in hereditary breast and ovarian cancers (HBOC). However, mutation prevalence of other HBOC genes has not been well-studied in Chinese patients with ovarian cancer. Methods: 398 ovarian cancer patients joined the Hong Kong Hereditary Breast Cancer Family Registry were subjected to 6-gene panel (BRCA1, BRCA2, TP53, PTEN, PALB2 and CDH1) by next-generation sequencing (NGS) for molecular diagnosis. 82 high-risk patients who were negative for 6 genes were then subjected to a 30-gene panel by NGS (Color Genomics). All detectable pathogenic variants were further validated by bi-directional DNA sequencing. Results: Of 398 ovarian cancer patients, 43 (10.8%) BRCA1, 17 (4.27%) BRCA2 and 1 (0.25%) PALB2 pathogenic carriers were identified. Seven pathogenic variants in ATM, BARD1, MSH2, MSH6 and RAD51D were further identified by 30-gene panel. 60 (88.24%) of the pathogenic carriers have family history of cancers. Among these carriers, 40 (66.67%) of them have family history of breast and/or ovarian cancers. 67 (98.52%) of the pathogenic carriers were being diagnosed with epithelial ovarian cancers. Those diagnosed with combined ovarian and uterine/endometrial cancer, 6/48 (12.5%) carried mutated pathogenic genes with 3/6 (50%) are BRCA related. Conclusions: BRCA mutations are the most prevalent mutations in Chinese ovarian cancer patients with family history of cancers. The use of multigene panels identified additional 2% pathogenic variants. Implementation of multigene sequencing should be included in mutation screening to offer appropriate treatments or select patients to clinical trials in synchronous ovarian and uterine/endometrial cancer.
DescriptionOral Session Abstract - OC04 Oral Communication: Genetics and Risk Reduction - abstract no. IGCS8-0270
Persistent Identifierhttp://hdl.handle.net/10722/273090
ISSN
2019 Impact Factor: 2.095
2015 SCImago Journal Rankings: 0.830

 

DC FieldValueLanguage
dc.contributor.authorKwong, A-
dc.contributor.authorShin, VY-
dc.contributor.authorCheuk, WYI-
dc.contributor.authorHo, C-
dc.contributor.authorAu, CH-
dc.contributor.authorChan, TL-
dc.contributor.authorMa, ESK-
dc.date.accessioned2019-08-06T09:22:20Z-
dc.date.available2019-08-06T09:22:20Z-
dc.date.issued2018-
dc.identifier.citationThe 17th Biennial Meeting of the International Gynecologic Cancer Society (IGCS 2018), Kyoto, Japan, 14-16 September 2018. In International journal of Gynecological Cancer, 2018, v. 28 n. Suppl. 2, p. 32-
dc.identifier.issn1048-891X-
dc.identifier.urihttp://hdl.handle.net/10722/273090-
dc.descriptionOral Session Abstract - OC04 Oral Communication: Genetics and Risk Reduction - abstract no. IGCS8-0270-
dc.description.abstractBackground and Aims: BRCA mutations attributed to 10-15% of hereditary ovarian cancers and are routinely tested in hereditary breast and ovarian cancers (HBOC). However, mutation prevalence of other HBOC genes has not been well-studied in Chinese patients with ovarian cancer. Methods: 398 ovarian cancer patients joined the Hong Kong Hereditary Breast Cancer Family Registry were subjected to 6-gene panel (BRCA1, BRCA2, TP53, PTEN, PALB2 and CDH1) by next-generation sequencing (NGS) for molecular diagnosis. 82 high-risk patients who were negative for 6 genes were then subjected to a 30-gene panel by NGS (Color Genomics). All detectable pathogenic variants were further validated by bi-directional DNA sequencing. Results: Of 398 ovarian cancer patients, 43 (10.8%) BRCA1, 17 (4.27%) BRCA2 and 1 (0.25%) PALB2 pathogenic carriers were identified. Seven pathogenic variants in ATM, BARD1, MSH2, MSH6 and RAD51D were further identified by 30-gene panel. 60 (88.24%) of the pathogenic carriers have family history of cancers. Among these carriers, 40 (66.67%) of them have family history of breast and/or ovarian cancers. 67 (98.52%) of the pathogenic carriers were being diagnosed with epithelial ovarian cancers. Those diagnosed with combined ovarian and uterine/endometrial cancer, 6/48 (12.5%) carried mutated pathogenic genes with 3/6 (50%) are BRCA related. Conclusions: BRCA mutations are the most prevalent mutations in Chinese ovarian cancer patients with family history of cancers. The use of multigene panels identified additional 2% pathogenic variants. Implementation of multigene sequencing should be included in mutation screening to offer appropriate treatments or select patients to clinical trials in synchronous ovarian and uterine/endometrial cancer.-
dc.languageeng-
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.ijgc.net/-
dc.relation.ispartofInternational Journal of Gynecological Cancer-
dc.relation.ispartof17th Biennial Meeting of The International Gynecologic Caner Society (IGCS 2018)-
dc.titleIdentification of germline mutation by 30 gene sequencing and clinical characteristics of Chinese with hereditary ovarian cancer-
dc.typeConference_Paper-
dc.identifier.emailKwong, A: avakwong@hku.hk-
dc.identifier.emailShin, VY: vyshin@hku.hk-
dc.identifier.emailCheuk, WYI: isacheuk@hku.hk-
dc.identifier.authorityKwong, A=rp01734-
dc.identifier.authorityShin, VY=rp02000-
dc.identifier.hkuros300017-
dc.identifier.volume28-
dc.identifier.issueSuppl. 2-
dc.identifier.spage32-
dc.identifier.epage32-
dc.publisher.placeUnited States-
dc.identifier.issnl1048-891X-

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