File Download
There are no files associated with this item.
Supplementary
-
Citations:
- Appears in Collections:
Conference Paper: Identification of germline mutation by 30 gene sequencing and clinical characteristics of Chinese with hereditary ovarian cancer
Title | Identification of germline mutation by 30 gene sequencing and clinical characteristics of Chinese with hereditary ovarian cancer |
---|---|
Authors | |
Issue Date | 2018 |
Publisher | Lippincott 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? |
Abstract | Background 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. |
Description | Oral Session Abstract - OC04 Oral Communication: Genetics and Risk Reduction - abstract no. IGCS8-0270 |
Persistent Identifier | http://hdl.handle.net/10722/273090 |
ISSN | 2023 Impact Factor: 4.1 2023 SCImago Journal Rankings: 1.107 |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kwong, A | - |
dc.contributor.author | Shin, VY | - |
dc.contributor.author | Cheuk, WYI | - |
dc.contributor.author | Ho, C | - |
dc.contributor.author | Au, CH | - |
dc.contributor.author | Chan, TL | - |
dc.contributor.author | Ma, ESK | - |
dc.date.accessioned | 2019-08-06T09:22:20Z | - |
dc.date.available | 2019-08-06T09:22:20Z | - |
dc.date.issued | 2018 | - |
dc.identifier.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 | - |
dc.identifier.issn | 1048-891X | - |
dc.identifier.uri | http://hdl.handle.net/10722/273090 | - |
dc.description | Oral Session Abstract - OC04 Oral Communication: Genetics and Risk Reduction - abstract no. IGCS8-0270 | - |
dc.description.abstract | Background 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.language | eng | - |
dc.publisher | Lippincott Williams & Wilkins. The Journal's web site is located at http://www.ijgc.net/ | - |
dc.relation.ispartof | International Journal of Gynecological Cancer | - |
dc.relation.ispartof | 17th Biennial Meeting of The International Gynecologic Caner Society (IGCS 2018) | - |
dc.title | Identification of germline mutation by 30 gene sequencing and clinical characteristics of Chinese with hereditary ovarian cancer | - |
dc.type | Conference_Paper | - |
dc.identifier.email | Kwong, A: avakwong@hku.hk | - |
dc.identifier.email | Shin, VY: vyshin@hku.hk | - |
dc.identifier.email | Cheuk, WYI: isacheuk@hku.hk | - |
dc.identifier.authority | Kwong, A=rp01734 | - |
dc.identifier.authority | Shin, VY=rp02000 | - |
dc.identifier.hkuros | 300017 | - |
dc.identifier.volume | 28 | - |
dc.identifier.issue | Suppl. 2 | - |
dc.identifier.spage | 32 | - |
dc.identifier.epage | 32 | - |
dc.publisher.place | United States | - |
dc.identifier.issnl | 1048-891X | - |