Willingness of Japanese patients with breast cancer to have genetic testing of BRCA without burden of expenses

Nakagomi, Hiroshi; Sakamoto, Ikuko; Hirotsu, Yosuke; Amemiya, Kenji; Mochizuki, Hitoshi; Inoue, M.; Nakagomi, Satoko; Kubota, Takeo; Omata, Masao

doi:10.1007/s12282-015-0618-7

Cited by 12 publications

(7 citation statements)

References 18 publications

(17 reference statements)

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“…BRCA gene testing was not frequently performed in patients with breast cancer in Japan, particularly because of the lack of insurance coverage and lack of willingness to undergo genetic testing. We recently reported that the higher the risk, the fewer is the number of patients willing to undergo testing . The only way to investigate the discordant results in Japanese patients may be to sample a large cohort of Japanese patients from all areas in Japan, ideally with insurance coverage.…”

Section: Frequency Of Brca 1/2 Deleterious Mutations and Clinical Feamentioning

confidence: 99%

“…We recently reported that the higher the risk, the fewer is the number of patients willing to undergo testing. 8 The only way to investigate the discordant results in Japanese patients may be to sample a large cohort of Japanese patients from all areas in Japan, ideally with insurance coverage. Because the test is still expensive in Japan, prudent testing is imperative.…”

Section: Correspondencementioning

confidence: 99%

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Unexpectedly low frequency of BRCA1/2 deleterious mutations in Japanese patients with breast cancer

et al. 2017

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KEYWORDSbrca1/2, breast cancer, Japanese Breast cancer is the most frequent malignancy in Japanese women with increasing incidences. Germline BRCA1 and BRCA2 mutations have been widely analysed for individuals at risk for hereditary breast and ovarian cancer syndrome in North America and Europe, where the prevalence of BRCA1/2 mutations has been reported to be 14%-18%.1,2 In Asia, the prevalence of BRCA1/2 mutations in patients with familial and early onset breast cancer has been reported to be 8.0%-31.8% and 2.8%-21.4% respectively. 3 In Japan, a few studies have reported the prevalence of BRCA1/2 mutations and shown that 29%-32% of Japanese patients with familial breast cancer have BRCA1/2 mutations, implying a higher frequency of harboring BRCA1/2 mutations than other Asian countries. 4-6 Here, we studied 191 patients to determine the clinical features and family histories of BRCA1/2 mutation carriers.One hundred ninety-one patients observed at our hospital from 2013 to 2015 were studied. We selected these patients according to the hereditary breast and/or ovarian cancer syndrome testing criteria of the National Comprehensive Cancer Network (NCCN, 2015). Of 191 patients, BRCA1/2 deleterious mutations were identified in 14 (7.3%; Table 1). Three (1.6%) were in BRCA1 and 11 (5.8%) in BRCA2 genes.There was no significant difference in the mutation rate of BRCA1/2 deleterious mutation between patients with the age ≤45 years and >45 years, with and without triple-negative breast cancer (Table 1). All BRCA1/2 mutations were detected at an early stage (stage 0/I/II) of breast cancers and none were detected at an advanced stage. The frequency of BRCA1/2 mutations was significantly higher in patients with both breast and ovarian cancers (50%) than in those with only breast cancer (4.5%, P<.001). These results suggest that having both breast and ovarian cancers is a distinct indicator of BRCA1/2 mutations.In this study, 161 patients met the NCCN criteria; however, the frequency of BRCA1/2 mutations was 8.0% and was not statistically different from that of 30 patients who did not have mutations (3.3%, P=.701). Thus, we attempted to explore the relationship between family history of close relatives and BRCA1/2 mutations.We could retrieve detailed family histories of 20 members to 2nd degree relatives on average. Of 191 patients, 73 patients did not have any family history, whereas 118 had at least one close relative with breast and/or ovarian cancer (Table 2). However, there was no statistically significant difference in the frequency of BRCA1/2 mutations in patients with (6.8%) or without (7.6%) close relatives with breast and/or ovarian cancer (P=1.0). If there were close relatives with ovarian cancer in the family, they tended to show a high frequency of BRCA mutations (20%).Three studies in Japan 4-6 unanimously report similar ranges (29-32%), thereby implying that BRCA1/2 may have a central role in the carcinogenesis of breast cancer in Japanese populations. Despite the fact that frequency depends largely on how pat...

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Section: Frequency Of Brca 1/2 Deleterious Mutations and Clinical Feamentioning

confidence: 99%

Section: Correspondencementioning

confidence: 99%

Unexpectedly low frequency of BRCA1/2 deleterious mutations in Japanese patients with breast cancer

et al. 2017

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“…The simultaneous detection of mutations and copy number alterations is an attractive and useful prospect for clinical settings. Therefore, the Oncomine ® BRCA1/2 Panel offers an improved and accurate assay method that is likely to accelerate the sequential procedures of genetic counseling [ 26 ], diagnosis, prevention, and treatment decisions for eligible patients.…”

Section: Discussionmentioning

confidence: 99%

Simultaneous detection of genetic and copy number alterations in BRCA1/2 genes

et al. 2017

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Germline mutations in BRCA1 and BRCA2 genes (BRCA1/2) predispose to hereditary breast and ovarian cancer syndrome (HBOC), and their dysregulation increases the risk of cancers. The detection of pathogenic BRCA1/2 variants is essential for the diagnosis and prevention of HBOC, and for offering treatment decisions for patients. Therefore, there is a growing demand for the development of accurate, rapid assay systems that simultaneously detect pathogenic variants and copy number alterations. Here, we tested Thermo Fisher Scientific’s newly developed Oncomine® BRCA1/2 Panel. We showed that all mutations in standard reference DNA were detected with high accuracy, and that values of allelic fractions were detected with high concordance (R2 = 0.9986). The Oncomine® BRCA1/2 Panel detected 21 pathogenic germline variants in 147 patients with breast and/or ovarian cancer, of which 20 were detected by the previously-launched Ion AmpliSeq™ BRCA1/2 Panel, except for one frameshift mutation. The Oncomine® BRCA1/2 Panel precisely captured one additional frameshift mutation, which is difficult to detect because of the homopolymer site. Large genomic deletion was identified in one sample, which was previously detected by multiplex ligation-dependent probe amplification. Oncomine® BRCA1/2 Panel could accurately detect pathogenic variant and copy number alteration, and be an alternative assay to investigate BRCA1/2 germline and somatic mutations.

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“…Genomic analysis was performed at our laboratory of GAC (Genome Analysis Center) established 3 years ago at our hospital [7] , [8] , [9] , [10] , [11] , [12] , [13] , [14] . We already developed lung cancer panel consisting of 53 genes [7] .…”

Section: Discussionmentioning

confidence: 99%

Analysis of significantly mutated genes as a clinical tool for the diagnosis in a case of lung cancer

Miyashita

Hirotsu

Tsutsui

et al. 2017

Respiratory Medicine Case Reports

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Bronchoendoscopic examination is not necessarily comfortable procedure and limited by its sensitivity, depending on the location and size of the tumor lesion. Patients with a non-diagnostic bronchoendoscopic examination often undergo further invasive examinations. Non-invasive diagnostic tool of lung cancer is desired. A 72-year-old man had a 3.0 cm × 2.5 cm mass lesion in the segment B1 of right lung. Cytological examination of sputum, bronchial washing and curetted samples were all “negative”. We could confirm a diagnosis of lung cancer after right upper lung lobe resection pathologically, and also obtained concordant results by genomic analysis using cytological negative samples from airways collected before operation. Genetic analysis showed mutational profiles of both resected specimens and samples from airways were identical. These data clearly indicated the next generation sequencing (NGS) may yield a diagnostic tool to conduct “precision medicine”.

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Willingness of Japanese patients with breast cancer to have genetic testing of BRCA without burden of expenses

Abstract: These data indicate that the currently available preventive measures and/or counseling system may not be sufficient enough to convince the high risk population to receive the genetic testing or to overcome the prejudice in non-urban area in Japan, even if served free.

Cited by 12 publications

References 18 publications

Unexpectedly low frequency of BRCA1/2 deleterious mutations in Japanese patients with breast cancer

Unexpectedly low frequency of BRCA1/2 deleterious mutations in Japanese patients with breast cancer

Simultaneous detection of genetic and copy number alterations in BRCA1/2 genes

Analysis of significantly mutated genes as a clinical tool for the diagnosis in a case of lung cancer

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