Abstract
The prevalence of BRCA1/2 germline mutations in Japanese patients suspected to have hereditary breast/ovarian cancer was examined by a multi-institutional study, aiming at the clinical application of total sequencing analysis and validation of assay sensitivity in Japanese people using a cross-sectional approach based on genetic factors estimated from personal and family histories. One hundred and thirty-five subjects were referred to the genetic counseling clinics and enrolled in the study. Full sequencing analysis of the BRCA1/2 gene showed 28 types of deleterious mutations in 36 subjects (26.7%), including 13 types of BRCA1 mutations in 17 subjects (12.6%) and 15 types of BRCA2 mutations in 19 subjects (14.1%). Subjects were classified into five groups and 22 subgroups according to their personal and family history of breast and/or ovarian cancer, and the prevalence of deleterious mutations was compared with previously reported data in non-Ashkenazi individuals. Statistical analysis using the Mantel-Haenszel test for groups I through IV revealed that the prevalence of Japanese subjects was significantly higher than that of non-Ashkenazi individuals (P = 0.005, odds ratio 1.87, 95% confidence interval 1.22-2.88). Family history of the probands suffering from breast cancer indicated risk factors for the presence of deleterious mutations of BRCA1/2 as follows: (1) families with breast cancer before age 40 within second degree relatives (P = 0.0265, odds ratio 2.833, 95% confidence interval 1.165-7.136) and (2) families with bilateral breast cancer and/or ovarian cancer within second degree relatives (P = 0.0151, odds ratio 2.88, 95% confidence interval 1.25-6.64).
| Original language | English |
|---|---|
| Pages (from-to) | 1967-1976 |
| Number of pages | 10 |
| Journal | Cancer Science |
| Volume | 99 |
| Issue number | 10 |
| DOIs | |
| Publication status | Published - Nov 3 2008 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Oncology
- Cancer Research
Cite this
Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. / Sugano, Kokichi; Nakamura, Seigo; Ando, Jiro; Takayama, Shin; Kamata, Hiroyuki; Sekiguchi, Isao; Ubukata, Megumi; Kodama, Tetsuro; Arai, Masami; Kasumi, Fujio; Hirai, Yasuo; Ikeda, Tadashi; Jinno, Hiromitsu; Kitajima, Masaki; Aoki, Daisuke; Hirasawa, Akira; Takeda, Yuko; Yazaki, Kumiko; Fukutomi, Takashi; Kinoshita, Takayuki; Tsunematsu, Ryuichiro; Yoshida, Teruhiko; Izumi, Masako; Umezawa, Shino; Yagata, Hiroshi; Komatsu, Hiroko; Arimori, Naoko; Matoba, Noriko; Gondo, Nobuhisa; Yokoyama, Shiro; Miki, Yoshio.
In: Cancer Science, Vol. 99, No. 10, 03.11.2008, p. 1967-1976.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer
AU - Sugano, Kokichi
AU - Nakamura, Seigo
AU - Ando, Jiro
AU - Takayama, Shin
AU - Kamata, Hiroyuki
AU - Sekiguchi, Isao
AU - Ubukata, Megumi
AU - Kodama, Tetsuro
AU - Arai, Masami
AU - Kasumi, Fujio
AU - Hirai, Yasuo
AU - Ikeda, Tadashi
AU - Jinno, Hiromitsu
AU - Kitajima, Masaki
AU - Aoki, Daisuke
AU - Hirasawa, Akira
AU - Takeda, Yuko
AU - Yazaki, Kumiko
AU - Fukutomi, Takashi
AU - Kinoshita, Takayuki
AU - Tsunematsu, Ryuichiro
AU - Yoshida, Teruhiko
AU - Izumi, Masako
AU - Umezawa, Shino
AU - Yagata, Hiroshi
AU - Komatsu, Hiroko
AU - Arimori, Naoko
AU - Matoba, Noriko
AU - Gondo, Nobuhisa
AU - Yokoyama, Shiro
AU - Miki, Yoshio
PY - 2008/11/3
Y1 - 2008/11/3
N2 - The prevalence of BRCA1/2 germline mutations in Japanese patients suspected to have hereditary breast/ovarian cancer was examined by a multi-institutional study, aiming at the clinical application of total sequencing analysis and validation of assay sensitivity in Japanese people using a cross-sectional approach based on genetic factors estimated from personal and family histories. One hundred and thirty-five subjects were referred to the genetic counseling clinics and enrolled in the study. Full sequencing analysis of the BRCA1/2 gene showed 28 types of deleterious mutations in 36 subjects (26.7%), including 13 types of BRCA1 mutations in 17 subjects (12.6%) and 15 types of BRCA2 mutations in 19 subjects (14.1%). Subjects were classified into five groups and 22 subgroups according to their personal and family history of breast and/or ovarian cancer, and the prevalence of deleterious mutations was compared with previously reported data in non-Ashkenazi individuals. Statistical analysis using the Mantel-Haenszel test for groups I through IV revealed that the prevalence of Japanese subjects was significantly higher than that of non-Ashkenazi individuals (P = 0.005, odds ratio 1.87, 95% confidence interval 1.22-2.88). Family history of the probands suffering from breast cancer indicated risk factors for the presence of deleterious mutations of BRCA1/2 as follows: (1) families with breast cancer before age 40 within second degree relatives (P = 0.0265, odds ratio 2.833, 95% confidence interval 1.165-7.136) and (2) families with bilateral breast cancer and/or ovarian cancer within second degree relatives (P = 0.0151, odds ratio 2.88, 95% confidence interval 1.25-6.64).
AB - The prevalence of BRCA1/2 germline mutations in Japanese patients suspected to have hereditary breast/ovarian cancer was examined by a multi-institutional study, aiming at the clinical application of total sequencing analysis and validation of assay sensitivity in Japanese people using a cross-sectional approach based on genetic factors estimated from personal and family histories. One hundred and thirty-five subjects were referred to the genetic counseling clinics and enrolled in the study. Full sequencing analysis of the BRCA1/2 gene showed 28 types of deleterious mutations in 36 subjects (26.7%), including 13 types of BRCA1 mutations in 17 subjects (12.6%) and 15 types of BRCA2 mutations in 19 subjects (14.1%). Subjects were classified into five groups and 22 subgroups according to their personal and family history of breast and/or ovarian cancer, and the prevalence of deleterious mutations was compared with previously reported data in non-Ashkenazi individuals. Statistical analysis using the Mantel-Haenszel test for groups I through IV revealed that the prevalence of Japanese subjects was significantly higher than that of non-Ashkenazi individuals (P = 0.005, odds ratio 1.87, 95% confidence interval 1.22-2.88). Family history of the probands suffering from breast cancer indicated risk factors for the presence of deleterious mutations of BRCA1/2 as follows: (1) families with breast cancer before age 40 within second degree relatives (P = 0.0265, odds ratio 2.833, 95% confidence interval 1.165-7.136) and (2) families with bilateral breast cancer and/or ovarian cancer within second degree relatives (P = 0.0151, odds ratio 2.88, 95% confidence interval 1.25-6.64).
UR - http://www.scopus.com/inward/record.url?scp=54949127524&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=54949127524&partnerID=8YFLogxK
U2 - 10.1111/j.1349-7006.2008.00944.x
DO - 10.1111/j.1349-7006.2008.00944.x
M3 - Article
VL - 99
SP - 1967
EP - 1976
JO - Cancer Science
JF - Cancer Science
SN - 1347-9032
IS - 10
ER -