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Journal of Cancer Research and Clinical Oncology

Erschienen in:

01.11.2009 | Original Paper

BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients

verfasst von: Myong Cheol Lim, Sokbom Kang, Sang-Soo Seo, Sun-Young Kong, Bo-Yon Lee, Seon-Kyung Lee, Sang-Yoon Park

Erschienen in: Journal of Cancer Research and Clinical Oncology | Ausgabe 11/2009

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Abstract

Purpose

To evaluate the proportion of Korean ovarian cancer patients with a strong family history and the genetic status in such patients.

Methods and patients

Pedigree analysis and genetic counseling were performed on 337 ovarian cancer patients in the National Cancer Center Korea between January 2005 and June 2008. Patients with a strong family history were defined as (1) patients with double primary ovarian and breast cancer and (2) ovarian cancer patients with one or more first-degree relatives with breast or ovarian cancer. Lymphocyte specimens from peripheral blood were processed for BRCA1 and BRCA2 by direct sequencing.

Results

Sixteen percent (54/337) of patients had a strong family history. Of the 54 patients with a strong family history, 40 patients (74%) accepted the genetic test. Thirteen deleterious mutations (11 in BRCA1 and 2 in BRCA2) were identified (33%). Twenty-three of 283 patients (8%) without a strong family history underwent genetic testing and two deleterious mutations in BRCA1 were identified (9%). Eight of 15 mutations (53%) were novel, and c.1041delAGCinsT and c.2081insC in the BRCA1 gene were recurrent in two patients.

Conclusions

The proportion of Korean ovarian cancer patients with a strong family history was significant, and the prevalence of BRCA1 and BRCA2 mutations in such patients was high.

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Titel: BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients
verfasst von: Myong Cheol Lim
Sokbom Kang
Sang-Soo Seo
Sun-Young Kong
Bo-Yon Lee
Seon-Kyung Lee
Sang-Yoon Park
Publikationsdatum: 01.11.2009
Verlag: Springer-Verlag
Erschienen in: Journal of Cancer Research and Clinical Oncology / Ausgabe 11/2009
Print ISSN: 0171-5216
Elektronische ISSN: 1432-1335
DOI: https://doi.org/10.1007/s00432-009-0607-3

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