Prevalence and differentiation of hereditary breast and ovarian cancers in Japan

Nakamura, Seigo; Takahashi, Masato; Tozaki, Mitsuhiro; Nakayama, Takahiro; Nomizu, Tadashi; Miki, Yoshio; Murakami, Yoshie; Aoki, Daisuke; Iwase, Takuji; Nishimura, Seiichiro; Yamauchi, Hideko; Ohsumi, Shozo; Baba, Shinichi; Shimizu, Tadao

doi:10.1007/s12282-013-0503-1

Cited by 52 publications

(46 citation statements)

References 23 publications

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“…Without functional BRCA, the cell is forced to repair the double-stranded DNA break through other mechanisms, which are error-prone, create instability and lead to mutations. This same mutation has already been identified in a Japanese HBOC case (14).…”

Section: Discussionsupporting

confidence: 76%

“…Most instances of BRCA1 mutations were triple negative breast cancer. A previous study concluded that the prevalence of HBOC in Japan was roughly similar to that in western countries (14). A retrospective analysis of 102 primary ovarian cancer patients, including nine cases of HBOC, revealed a correlation between a family history of ovarian cancer in Japanese women and BRCA1/2 mutations (15).…”

Section: Discussionmentioning

confidence: 91%

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Serous Tubal Intraepithelial Carcinoma in a Japanese Woman with a Deleterious BRCA1 Mutation

Ishikawa

Kiyokawa

Utsuno

et al. 2014

Japanese Journal of Clinical Oncology

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Risk-reducing salpingo-oophorectomy for reducing future cancer risk in women with hereditary breast and ovarian cancer syndrome is rarely performed in Japan; therefore, the cancer preventive effect of risk-reducing salpingo-oophorectomy for hereditary breast and ovarian cancer syndrome among the Japanese population remains unclear. Here, we report the first case of serous tubal intraepithelial carcinoma identified through a risk-reducing salpingo-oophorectomy in a Japanese woman with hereditary breast and ovarian cancer syndrome and who had a deleterious germline mutation of E1214X in BRCA1, but not a BRCA2 mutation. A pre-operative examination revealed multiple uterine leiomyomas but no adnexal mass. Robotic-assisted bilateral salpingo-oophorectomy together with hysterectomy was performed. A pathological examination identified serous tubal intraepithelial carcinoma in the right fallopian tube with no dissemination. Serous tubal intraepithelial carcinoma is implicated as an origin of invasive cancer of the fallopian tube with peritoneal dissemination; prophylactic salpingo-oophorectomy is currently the only method to identify this occult cancer. Our case demonstrated that riskreducing salpingo-oophorectomy can detect occult cancers, including serous tubal intraepithelial carcinoma, thereby preventing future cancer development in the Japanese hereditary breast and ovarian cancer syndrome population.

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Section: Discussionsupporting

confidence: 76%

Section: Discussionmentioning

confidence: 91%

Serous Tubal Intraepithelial Carcinoma in a Japanese Woman with a Deleterious BRCA1 Mutation

Ishikawa

Kiyokawa

Utsuno

et al. 2014

Japanese Journal of Clinical Oncology

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“…Reports originating from Japan remain few in number (5,35,36). Further investigations are required to reveal the genetic features of Japanese patients with breast and/or other cancers (ovary, pancreas, prostate, and so forth).…”

Section: Discussionmentioning

confidence: 99%

PALB2 mutation in a woman with bilateral breast cancer: A case report

Nakagomi

Hirotsu

Okimoto

et al. 2017

Molecular and Clinical Oncology

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Abstract. Partner and localizer of breast cancer 2 (PALB2) was identified as a moderate-risk gene of breast and pancreas cancer. The present authors previously reported that no PALB2 germline mutations with a deleterious frameshift or stop codons were identified in 155 Japanese patients with breast and/or ovarian cancer who were estimated to be at risk of hereditary cancer, according to the National Comprehensive Cancer Network (NCCN) criteria. In the present study, one patient with a deleterious mutation of PALB2 (c. 2834+2 T>C) has been identified from a study of an additional 128 cases. Therefore, the prevalence of PALB2 among Japanese patients is now estimated to be 0.35% (1/283). The proband was a 63-year-old woman with bilateral breast cancer, although she had experienced no other cancers. The proband had two elder sisters, the eldest of whom died from pancreatic cancer at 60 years of age. The proband's 40-year-old daughter was affected, but did not show any malignancies. There are only a few reports concerning PALB2 mutations in Japan. To the best of our knowledge, this is the first case study to reveal the significance of DNA-repair genes in the development of malignancies in Japanese patients with breast cancer. IntroductionThe significance of the breast cancer 1 (BRCA1) and BRCA2 mutations in familial breast and ovarian cancer has been well established (1,2). However, the mutations of these genes are estimated to cause, at most, 20-30% of cases of hereditary breast cancer (3). The present authors studied the BRCA1/2 mutations in 191 patients in a previous study, but the prevalence was shown to be unexpectedly low (4,5). In fact, it was only 7% among the analyzed patients who had a family history of breast cancers.Partner and localizer of BRCA2 (PALB2) was identified as a moderate-risk gene in breast and pancreas cancer (6). PALB2 is located on chromosome 16p12.2 containing 13 exons and 12 introns, and is involved in BRCA2-associated pathways (6). Recently, Antoniou et al (7) reported that PALB2 carriers have a high risk of developing breast cancer, and concluded that the cumulative risk of mutation carrier was 34% by the age of 70 in their prospective follow-up study on 154 families.The prevalence of the PALB2 mutation was reported to be 1.2-3.4% in European countries, whereas it is very rare in Asian countries (8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18). To the best of our knowledge, no study has been performed that has identified the PALB2 deleterious mutation in Japanese patients with breast cancer. From our first cohort data, no deleterious PALB2 mutations were identified in 155 patients with breast and/or ovarian cancer who were estimated to be at risk of hereditary cancer according to the National Comprehensive Cancer Network (NCCN) criteria (19). In the present case study, an additional 128 cases having breast and/or ovarian cancer were studied, and the case of a patient with bilateral breast cancer is presented who harbors the deleterious mutation in PALB2. Factoring in the first cohort of 155 c...

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“…Only 260 individuals with a strong family history of breast cancer at 8 institutions in Japan were recorded and analyzed regarding BRCA1/2 genes by the end of March 2012 (29). The small sample size of this study limits its clinical significance and the results of on-going study are required.…”

Section: Discussionmentioning

confidence: 99%

Current condition of genetic medicine for hereditary breast cancer

Terui-Kohbata

Yoshida

2017

Molecular and Clinical Oncology

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Abstract. BRCA1 or BRCA2 (BRCA1/2) germline mutations, which cause hereditary breast and ovarian cancer syndrome, have been studied to develop targeted therapies for these associated cancer types. The BRCA1/2 test has been implemented in more than one hundred medical facilities in a clinical setting in Japan. The purpose of the current study is to document the prevalence and the awareness of genetic medicine for all hereditary breast cancer (HBC) including the BRCA1/2 test in Japan. The self-administered questionnaire was sent to 120 medical facilities where the BRCA1/2 test was provided, and 83 health care professionals participated (response rate, 69.2%). Of the all respondents, 33.7% (N=42) were clinical geneticists, 31.3% (N=26) other physicians, 15.7% (N=13) genetic counselors and 2.4% (N=2) nurses. In the most recent one-year period, in 83.1% of the 69 facilities the number of patients who underwent genetic testing for HBC was <10 and only 4 facilities provided multigene panel testing for HBC. In order to facilitate the access to genetic medicine, the majority of the genetic counselors (58.3%) recognized the need for education of healthcare professionals. Although the awareness of and interests in HBC have increased gradually, the equitable access to precision medicine is considered to be a challenging issue in Japan. IntroductionThe number of individuals affected with breast cancer has increased globally. In Japan, 89,400 females were newly diagnosed with breast cancer and there were 13,800 mortalities attributed to this disease in 2015 (1). Approximately 20% of breast cancer patients have a family history and 5-10% (2,3) are considered to be hereditary (hereditary breast cancer) HBC caused by a germline mutation such as BRCA1, BRCA2, TP53 or PTEN. Mutations in BRCA1/2 genes are associated with hereditary breast and ovarian cancer syndrome (HBOC), which is the most common form of HBC. It is also known that germline mutations of DNA mismatch repair (MMR) genes, such as MLH1, MSH2 and MSH6 are caused by Lynch syndrome, which is a hereditary colorectal cancer syndrome, and MLH1 particularly increases the risk of breast cancer (4).Women with HBOC have a 41-90% lifetime risk of developing breast cancer (5) and HBOC is characterized by the high risk of contralateral breast cancer (6). In addition, the cumulative risk for ovarian cancer is 8-59% and is higher in BRCA1 mutation carriers compared with BRCA2 mutation carriers (5-7). It was revealed that triple-negative breast cancer, which is estrogen receptor/progesterone receptor-negative and human epidermal growth factor receptor 2, negative was associated with HBOC and that 36% of women with early-onset triple-negative breast cancer (aged <40 years) had a BRCA1 mutation and 27% of women with triple-negative breast cancer diagnosed before the age of 50 years had a BRCA1 mutation (8). Male BRCA1/2 mutation carriers are also at increased risk of cancer. The cumulative risk of breast cancer is 1.2% in male BRCA1 mutation carriers and 6.8% in male BRCA2 mutation car...

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Prevalence and differentiation of hereditary breast and ovarian cancers in Japan

Cited by 52 publications

References 23 publications

Serous Tubal Intraepithelial Carcinoma in a Japanese Woman with a Deleterious BRCA1 Mutation

Serous Tubal Intraepithelial Carcinoma in a Japanese Woman with a Deleterious BRCA1 Mutation

PALB2 mutation in a woman with bilateral breast cancer: A case report

Current condition of genetic medicine for hereditary breast cancer

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