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Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations.
Hum Mutat. 2000 Jul; 16(1):88-9.HM

Abstract

Germline mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. An incidence of 5% and 3.3% respectively has been reported of BRCA1 and BRCA2 mutations in women with ovarian cancer unselected for family history. The contribution of BRCA1 and BRCA2 mutations to ovarian cancer in Chinese women is unknown. A total of 60 samples of ovarian cancer diagnosed in Chinese unselected for age or family history were analyzed for BRCA mutations using the protein truncation test. The entire coding exon of BRCA1 of 53 cases and that of exon 11 of BRCA2 of 43 cases were successfully screened. Six germline (11.3%) mutations (633C>T, 1080delT, 1129delA, 2371-2372delTG, 3976-3979delGTGA, and IVS 22+7 A>G) were detected in BRCA1. One germline mutation (3337C>T) (2.1%) was detected in BRCA2. None of these seven cases were associated with strong family history of breast and/or ovarian cancer. Five out of our six BRCA1 mutations and the one BRCA2 mutation identified are novel. Our 11.3% incidence of BRCA1 mutations in ovarian cancer found amongst Chinese with insignificant family history is apparently higher than that previously reported in other populations. It suggests that BRCA1 mutation may play a significant role in the development of sporadic ovarian cancer in Chinese women.

Authors+Show Affiliations

Department of Pathology, Queen Mary Hospital, The University of Hong Kong, Hong Kong. uskhoo@hkucc.hku.hkNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10874312

Citation

Khoo, U S., et al. "Mutational Analysis of BRCA1 and BRCA2 Genes in Chinese Ovarian Cancer Identifies 6 Novel Germline Mutations." Human Mutation, vol. 16, no. 1, 2000, pp. 88-9.
Khoo US, Ngan HY, Cheung AN, et al. Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations. Hum Mutat. 2000;16(1):88-9.
Khoo, U. S., Ngan, H. Y., Cheung, A. N., Chan, K. Y., Lu, J., Chan, V. W., Lau, S., Andrulis, I. L., & Ozcelik, H. (2000). Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations. Human Mutation, 16(1), 88-9.
Khoo US, et al. Mutational Analysis of BRCA1 and BRCA2 Genes in Chinese Ovarian Cancer Identifies 6 Novel Germline Mutations. Hum Mutat. 2000;16(1):88-9. PubMed PMID: 10874312.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations. AU - Khoo,U S, AU - Ngan,H Y, AU - Cheung,A N, AU - Chan,K Y, AU - Lu,J, AU - Chan,V W, AU - Lau,S, AU - Andrulis,I L, AU - Ozcelik,H, PY - 2000/6/30/pubmed PY - 2000/9/2/medline PY - 2000/6/30/entrez SP - 88 EP - 9 JF - Human mutation JO - Hum Mutat VL - 16 IS - 1 N2 - Germline mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. An incidence of 5% and 3.3% respectively has been reported of BRCA1 and BRCA2 mutations in women with ovarian cancer unselected for family history. The contribution of BRCA1 and BRCA2 mutations to ovarian cancer in Chinese women is unknown. A total of 60 samples of ovarian cancer diagnosed in Chinese unselected for age or family history were analyzed for BRCA mutations using the protein truncation test. The entire coding exon of BRCA1 of 53 cases and that of exon 11 of BRCA2 of 43 cases were successfully screened. Six germline (11.3%) mutations (633C>T, 1080delT, 1129delA, 2371-2372delTG, 3976-3979delGTGA, and IVS 22+7 A>G) were detected in BRCA1. One germline mutation (3337C>T) (2.1%) was detected in BRCA2. None of these seven cases were associated with strong family history of breast and/or ovarian cancer. Five out of our six BRCA1 mutations and the one BRCA2 mutation identified are novel. Our 11.3% incidence of BRCA1 mutations in ovarian cancer found amongst Chinese with insignificant family history is apparently higher than that previously reported in other populations. It suggests that BRCA1 mutation may play a significant role in the development of sporadic ovarian cancer in Chinese women. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/10874312/Mutational_analysis_of_BRCA1_and_BRCA2_genes_in_Chinese_ovarian_cancer_identifies_6_novel_germline_mutations_ L2 - https://doi.org/10.1002/1098-1004(200007)16:1<88::AID-HUMU16>3.0.CO;2-G DB - PRIME DP - Unbound Medicine ER -