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Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families.
Hum Mutat. 2002 Sep; 20(3):235.HM

Abstract

Germline mutations in the BRCA1 and BRCA2 genes are responsible for the predisposition and development of familial breast and/or ovarian cancer. Most mutations of BRCA1 and BRCA2 associated with breast and/or ovarian cancer result in truncated proteins. To investigate the presence of BRCA1 and BRCA2 germline mutations in Korean breast and/or ovarian cancer families, we screened a total of 27 cases from 21 families including two or more affected first- or second-degree relatives with breast and/or ovarian cancer. PTT, PCR-SSCP, and DHPLC analysis, followed by sequencing were used in the screening process. In nine families, we found BRCA1 and BRCA2 germline mutations that comprised four frameshift mutations and five nonsense mutations. All nine mutations led to premature termination producing shortened proteins. Among the nine mutations, three novel BRCA1 mutations (E1114X, Q1299X, 4159delGA) and two novel BRCA2 mutations (K467X, 8945delAA) were identified in this work.

Authors+Show Affiliations

Korean Hereditary Tumor Registry, Laboratory of Cell Biology, Cancer Research Center and Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

12204006

Citation

Kang, Hio Chung, et al. "Germline Mutations of BRCA1 and BRCA2 in Korean Breast And/or Ovarian Cancer Families." Human Mutation, vol. 20, no. 3, 2002, p. 235.
Kang HC, Kim IJ, Park JH, et al. Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families. Hum Mutat. 2002;20(3):235.
Kang, H. C., Kim, I. J., Park, J. H., Kwon, H. J., Won, Y. J., Heo, S. C., Lee, S. Y., Kim, K. H., Shin, Y., Noh, D. Y., Yang, D. H., Choe, K. J., Lee, B. H., King, S. B., & Park, J. G. (2002). Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families. Human Mutation, 20(3), 235.
Kang HC, et al. Germline Mutations of BRCA1 and BRCA2 in Korean Breast And/or Ovarian Cancer Families. Hum Mutat. 2002;20(3):235. PubMed PMID: 12204006.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families. AU - Kang,Hio Chung, AU - Kim,Il-Jin, AU - Park,Jae-Hyun, AU - Kwon,Hyuk-Jun, AU - Won,Yong-Jin, AU - Heo,Seung Chul, AU - Lee,Sang-Yon, AU - Kim,Kyung-Hee, AU - Shin,Yong, AU - Noh,Dong Young, AU - Yang,Dae-Hyun, AU - Choe,Kuk Jin, AU - Lee,Bong Hwa, AU - King,Soon Beom, AU - Park,Jae-Gahb, PY - 2002/8/31/pubmed PY - 2002/11/26/medline PY - 2002/8/31/entrez SP - 235 EP - 235 JF - Human mutation JO - Hum Mutat VL - 20 IS - 3 N2 - Germline mutations in the BRCA1 and BRCA2 genes are responsible for the predisposition and development of familial breast and/or ovarian cancer. Most mutations of BRCA1 and BRCA2 associated with breast and/or ovarian cancer result in truncated proteins. To investigate the presence of BRCA1 and BRCA2 germline mutations in Korean breast and/or ovarian cancer families, we screened a total of 27 cases from 21 families including two or more affected first- or second-degree relatives with breast and/or ovarian cancer. PTT, PCR-SSCP, and DHPLC analysis, followed by sequencing were used in the screening process. In nine families, we found BRCA1 and BRCA2 germline mutations that comprised four frameshift mutations and five nonsense mutations. All nine mutations led to premature termination producing shortened proteins. Among the nine mutations, three novel BRCA1 mutations (E1114X, Q1299X, 4159delGA) and two novel BRCA2 mutations (K467X, 8945delAA) were identified in this work. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/12204006/Germline_mutations_of_BRCA1_and_BRCA2_in_Korean_breast_and/or_ovarian_cancer_families_ L2 - https://doi.org/10.1002/humu.9059 DB - PRIME DP - Unbound Medicine ER -