Incidence of <i>BRCA1</i> and <i>BRCA2</i> Mutations in Young Korean Breast Cancer Patients

Choi, Doo Ho; Lee, Min Hyuk; Bale, Allen E.; Carter, Darryl; Haffty, Bruce G.

doi:10.1200/jco.2004.04.179

Cited by 100 publications

(75 citation statements)

References 41 publications

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“…In previous studies, we observed higher or comparable prevalence of BRCA1 and BRCA2 mutations in Korean patients with breast cancer compared to Caucasian breast population [14][15][16]. Our goal in this study was to determine the frequency of CHEK2 1100delC mutation among Korean patients with breast cancer who had commercial genetic testing of BRCA1 and BRCA2.…”

Section: Introductionmentioning

confidence: 87%

The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation

Choi

Cho

Lee

et al. 2008

Breast Cancer Res Treat

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The germline CHEK2 1100delC mutation is a low penetrance breast cancer susceptibility allele, frequently observed in patient with family history of breast cancer and/or young age and the frequency varied according to race or ethnicity. In this study, we evaluated the significance of CHEK2 1100delC in predisposition to breast cancer by assessing its frequency in a material of 493 Korean breast cancer patients who had been screened for BRCA1 and BRCA2 mutations (42 patients had deleterious mutation of BRCA1/2). Mutation detection of CHEK2 1100delC was based upon analysis of primer extension products generated for previously amplified genomic DNA using a chip based MALDI-TOP mass spectrometry platform. After overall measurement automatically, assays which had bad peaks were checked again manually. None of the 493 Korean patients with breast cancer who were candidate for BRCA1 and BRCA2 test carried the 1100delC mutation observed in Caucasians with limited frequency. In the previous studies, we observed higher or comparable prevalence of BRCA1 and BRCA2 mutations in Korean patients with breast cancer compared to Caucasian breast cancer population. In the present study, we evaluated the role of a CHEK2 1100delC as a susceptibility mutation of breast cancer in the Korean population. However, our results suggest that this mutation is absent or may be very infrequent in Korean patients with breast cancer who have high risk of BRCA1 and BRCA2 mutation, making its screening irrelevant from the practical point view.

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Section: Introductionmentioning

confidence: 87%

The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation

Choi

Cho

Lee

et al. 2008

Breast Cancer Res Treat

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“…The detailed sequencing procedure was the same as that described in our previously published study (Lim et al 2009). Citing the Breast Cancer Information Core (BIC) database (https://research.nhgri.nih.gov/projects/ bic/) and the previously published Korean BRCA1/2 germline mutations (Choi et al 2004;Kim et al 2012;Lim et al 2009;Seo et al 2004;Seong et al 2009), only the patients who had deleterious mutations (e.g., frameshift mutation and nonsense mutation) in the BRCA1 or BRCA2 gene were defined as mutation carriers. In contrast, patients with normal sequencing and those with variants of unclear significance were classified as non-carriers.…”

Section: Methodsmentioning

confidence: 99%

Uptake of risk-reducing salpingo-oophorectomy among female BRCA mutation carriers: experience at the National Cancer Center of Korea

Lim

Lee

Kong

et al. 2015

J Cancer Res Clin Oncol

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“…This peculiarity leads to investigations into the implication of susceptibility genes with breast carcinogenesis in Korean population. Frequency of BRCA1 and BRCA2 mutations has been reported to be high in Korean breast cancer patients [21,22]. However, since only a small fraction of cases are attributable to BRCA mutations, it has been assumed that multiple alleles with small to moderated cancer risk are implicated with breast carcinogenesis.…”

Section: Discussionmentioning

confidence: 98%

“…The median age of breast cancer diagnosis in Korean women is 46 years, 15 years younger than Caucasian women in the United States [18], and about two-thirds of Korean patients are premenopausal [19,20]. Although the prevalence of BRCA1 and BRCA2 mutations was high in Korean women with breast cancer at young age [21,22], other genes may remain to be discovered account for distinct epidemiology of breast cancer in Korea. Our goal in this study is to determine the frequency of PALB2 1592delT and 229delT mutations among non-BRCA1/BRCA2 Korean breast cancer patients with clinical risk factors.…”

Section: Introductionmentioning

confidence: 99%

PALB2 mutations 1592delT and 229delT are not present in Korean breast cancer patients negative for BRCA1 and BRCA2 mutations

Kim

Choi

Cho

et al. 2010

Breast Cancer Res Treat

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PALB2 is a recently discovered breast cancer susceptibility gene, and mutations in the gene have been demonstrated to confer about twofold higher risk of breast cancer. Truncating mutations in PALB2 gene have been identified in varied populations. However, PALB2's significance to breast cancer has not been investigated in the Korean population. In this study, we evaluated the frequency of PALB2 1592delT and 229delT mutations in 300 Korean breast cancer patients diagnosed with either familial or early-onset breast cancer. All patients were confirmed negative for BRCA1 and BRCA2 mutations. Neither 1592delT nor 229delT mutations was found in any of the study cohort. Our results imply that these mutations are absent or rare in Korean patients who are negative for BRCA1 and BRCA2 mutations. We found no evidence to recommend screening for these mutations in the Korean population. However, PALB2 mutations have been demonstrated infrequent and inhomogeneous across investigated populations. Thus, screening the whole PALB2 gene for novel mutations is required to elucidate its significance in predisposition to breast cancer in Korean women.

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Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients

Cited by 100 publications

References 41 publications

The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation

The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation

Uptake of risk-reducing salpingo-oophorectomy among female BRCA mutation carriers: experience at the National Cancer Center of Korea

PALB2 mutations 1592delT and 229delT are not present in Korean breast cancer patients negative for BRCA1 and BRCA2 mutations

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