Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: The Korean Hereditary Breast Cancer (KOHBRA) Study

Son, Byung Ho; Ahn, Sei Hyun; Kim, Sung-Won; Kang, Eunyoung; Park, Sung Sup; Lee, Min Hyuk; Noh, Woo-Chul; Kim, Lee Su; Jung, Yongsik; Kim, Ku Sang; Noh, Dong‐Young; Moon, Byung‐In; Suh, Young Jin; Lee, Jeong Eon; Choi, Doo Ho; Kim, Sung Yong; Jung, Sung Hoo; Yom, Cha Kyong; Lee, Hy-De; Yang, Jung‐Hyun

doi:10.1007/s10549-012-2001-0

Cited by 42 publications

(38 citation statements)

References 40 publications

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“…The mutation rate of BRCA1 and BRCA2 genes among high risk breast cancer patients who were suspected to have hereditary breast/ovarian cancer also varies by country, ranging from 3.8% in Hong Kong (BRCA1) (Tang et al, 1999), 5.1% in Iran (BRCA1) (Kooshyar et al, 2013), 7.6% in northwest China (BRCA1/2) (Ou et al, 2013), 7.8% in Indonesia (BRCA1/2) (Purnomosari et al, 2007), 8.6%-12.7 % in Korea (BRCA1/2) (Ahn et al, 2004;Son et al, 2012), and 26.7% in Japan (BRCA1/2) (Sugano et al, 2008). The BRCA1 and BRCA2 mutation rates among all breast cancer cases were 1.1% in Shanghai (Suter et al, 2004) and 2.8% in Korea (Ahn et al, 2004).…”

Section: Discussionmentioning

confidence: 99%

Differences in Incidence, Mortality and Survival of Breast Cancer by Regions and Countries in Asia and Contributing Factors

Kim¹,

Yoo

Goodman

2015

Asian Pacific Journal of Cancer Prevention

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Section: Discussionmentioning

confidence: 99%

Differences in Incidence, Mortality and Survival of Breast Cancer by Regions and Countries in Asia and Contributing Factors

Kim¹,

Yoo

Goodman

2015

Asian Pacific Journal of Cancer Prevention

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“…Approximately 8.6-21.7 % of Korean patients with highrisk breast cancer have BRCA1/2 mutations [23,27,28]. Previous studies have shown that the frequency of BRCA1/ 2 mutations among Korean patients with familial breast cancer was lower than that in Western populations [23].…”

Section: Discussionmentioning

confidence: 99%

Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation

et al. 2015

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The purpose of the present study was to analyze genetic variations in the NBS1 gene and to evaluate the contribution of heterozygous NBS1 mutation to the risk of breast cancer among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation. We screened 235 non-BRCA1/2 Korean patients with high-risk breast cancer for NBS1 mutations. The entire NBS1 gene was sequenced using fluorescent conformation-sensitive capillary electrophoresis. In silico analysis of the NBS1 variants was performed using PolyPhen-2 and SIFT. The frequency of variants predicted to be deleterious by in silico analysis was compared between breast cancer patients and controls. Twenty-eight sequence variants in the NBS1 gene were identified: 9 exonic variants, including 5 missense mutations (p.R169C, p.I171V, p.E185Q, p.E564K, and p.F603L) and 4 silent mutations, and 19 variants within introns. Among the five missense variants, p.I171V (c.511A > G) was the only variant predicted to be deleterious by in silico analysis. Heterozygosity for p.I171V was found in 4/235 patients with breast cancer and 3/281 individuals in the control group. The frequency of p.I171V was not significantly different between the patient and control groups (1.7 vs. 1.06%, p = 0.7). Heterozygosity of p.I171V in the NBS1 gene was found in a small proportion of Korean patients with high-risk breast cancer. The contribution of the p.I171V variant to the development of breast cancer among Korean patients was not significant.

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“…It is well known that Ashkenazi Jews have a high frequency of BRCA1 / 2 mutations 5 . Recently, several studies have reported that Asian populations have a similarly high frequency of BRCA1 / 2 mutations [7][8][9] . In Japan, the actual frequency of BRCA1 / 2 mutations in the general population is not clear.…”

Section: Originalmentioning

confidence: 99%

“…In the case of patients 40 years of age, seven of the 22 31. 8 who underwent testing were positive for BRCA1 / 2 mutations. This rate was not signi cantly different from the rate in patients 40 years of age 8 / 35 22.9 ; P 0.66 .…”

Section: Brca1 / 2 Mutation Frequency According To Age and Fh In Japamentioning

confidence: 99%

BRCA1/2 Mutation Frequency is HIGH in Japanese Triple-Negative Breast Cancer Patients

Shigenaga

Akashi‐Tanaka

Uchida

et al. 2014

Showa Univ J Med Sci

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: Germline mutations of BRCA1 / 2 genes cause hereditary breast and / or ovarian cancer. However, whether guidelines like those of the National Comprehensive Cancer Network NCCN can suitably predict the likelihood of BRCA1 / 2 mutations in the Japanese population is unclear. Methods BRCA1 / 2 gene mutation frequencies were investigated in relation to parameters such as age, family history FH , and breast cancer subtype using data collected from 922 Japanese breast cancer patients who underwent surgery between September 2010 and June 2013. BRCA1 / 2 mutations were present in 15 of 57 26.3 tested patients. The frequency of the mutations was not signi cantly related to age. Among the 180 patients who reported an FH of breast cancer, 11 of the 37 who were tested 29.7were positive for BRCA1 / 2 mutations. Of those with an FH of ovarian cancer n 34 , seven of 12 patients tested 58.3 were carriers of BRCA1 / 2 P 0.013 . Six of these seven carriers were triple-negative breast cancer TNBC patients. In all, there were 97 TNBC patients, and the presence of the BRCA1 / 2 mutation in this subgroup was signi cantly greater than in non-TNBC patients, with 12 of 17 TNBC patients 70.5 testing positive P 0.03 . There were 59 TNBC patients 60 years of age, and of the 16 27.1 who underwent BRCA1 / 2 genetic testing, 11 68.8 were found to have mutations in BRCA1 / 2. Among the TNBC patients, 29 also reported an FH of breast or ovarian cancer ; of these, nine of the 13 tested 69.2 were positive for a BRCA1 / 2 mutation. The data demonstrate that BRCA1 / 2 mutations are observed more frequently in TNBC patients, especially those 60 years of age or in combination with an FH of breast and / or ovarian cancer, suggesting that some of the NCCN guidelines can adequately predict BRCA1 / 2 carriers in the Japanese population.

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Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: The Korean Hereditary Breast Cancer (KOHBRA) Study

Cited by 42 publications

References 40 publications

Differences in Incidence, Mortality and Survival of Breast Cancer by Regions and Countries in Asia and Contributing Factors

Differences in Incidence, Mortality and Survival of Breast Cancer by Regions and Countries in Asia and Contributing Factors

Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation

BRCA1/2 Mutation Frequency is HIGH in Japanese Triple-Negative Breast Cancer Patients

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