BRCAness Combined With a Family History of Cancer Is Associated With a Poor Prognosis for Breast Cancer Patients With a High Risk of BRCA Mutations

Mori, Hitomi; Kubo, Makoto; Kai, Masaya; Velasquez, Vittoria Vanessa; Kurata, Kanako; Yamada, Mai; Okido, Masayuki; Kuroki, Shin-Ichiro; Oda, Yoshinao; Nakamura, Masafumi

doi:10.1016/j.clbc.2018.05.008

Cited by 7 publications

(4 citation statements)

References 38 publications

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“…Even after adjusting the clinical prognostic factors, the results were significantly worse, suggesting that BRCA mutation is an independent factor of poor prognosis ( 38 ). Mori et al ( 39 ) also have published similar results that patients with BRCA tumors having a family history of BC were associated with a poor prognosis. Our results were similar to the results of these two studies.…”

Section: Discussionmentioning

confidence: 74%

Prognostic Prediction of BRCA Mutations by 18F-FDG PET/CT SUVmax in Breast Cancer

Özdemir¹,

Sılan²,

Akgün³

et al. 2021

Mirt

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Objectives: This study aimed to investigate the prognostic prediction of germline BRCA1 and BRCA2 mutations by comparing the maximum standardized uptake value (SUV max ) obtained from 18 fluoride-fluorodeoxyglucose positron emission tomography/computed tomography ( 18 F-FDG PET/CT), which is considered a prognostic factor in breast cancer (BC). Methods: Retrospective interdisciplinary laboratory results of 92 patients with BC who had germline BRCA1 or BRCA2 mutation profiles and underwent 18 F-FDG PET/CT were compared. Genotyping was made by next-generation sequencing, and PET/CT scans were re-evaluated. The histopathological data, genetic results, and clinical demographics of all patients were recorded. Patients were divided into two groups in accordance with the presence of germline BRCA1 and/or BRCA2 mutations. Between-group statistical comparison was performed. Results: In PET/CT performed for primary staging, patients with BRCA-positive BC had significantly higher SUV max (p=0.039), larger tumor size (p=0.025), and presence of axillary nodal metastases (p=0.023) than patients with BRCA-negative BC. Although the Ki-67 index was higher in the BRCA-positive group than BRCA-negative group, this difference was not significant (p=0.157). Moreover, in the BRCA-positive and negative groups, SUV max , Ki-67 index, and tumor size, grade, and stage were significantly correlated with each other. Conclusion: The results of this study showed a strong association between BRCA mutations and SUV max , which indicates the poor prognosis of BC.

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Section: Discussionmentioning

confidence: 74%

Prognostic Prediction of BRCA Mutations by 18F-FDG PET/CT SUVmax in Breast Cancer

Özdemir¹,

Sılan²,

Akgün³

et al. 2021

Mirt

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“…Approximately 5-10% of all breast cancers were reported to be inherited [1][2][3]. Since the identification of BRCA1 in 1994 [4] and BRCA2 in 1995 [5], various studies of hereditary breast and ovarian cancer (HBOC) have progressed rapidly.…”

Section: Introductionmentioning

confidence: 99%

Genetic medicine is accelerating in Japan

et al. 2022

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Background In 2018, BRACAnalysis® was covered by medical insurance in Japan as a companion diagnostic test for the poly ADP-ribose polymerase inhibitor olaparib. In April 2020, eligibility for BRCA1/2 genetic testing was expanded to the diagnosis of hereditary breast and ovarian cancer syndrome, and medical management including prophylactic surgery and surveillance were covered by public insurance for BRCA1/2 mutation carriers who developed breast or ovarian cancer. The amount of BRCA1/2 genetic testing has been increasing recently, but the number of subjects and the impact of testing for patients’ outcomes remain unclear. Patients and methods This study explored the potential number of patients who will be eligible for new insurance coverage for BRCA1/2 genetic testing. We analyzed 868 patients from 938 surgeries between January 2014 and September 2020 from our database. Results Overall, 372 patients (43%) were eligible for new insurance coverage for BRCA1/2 genetic testing. The most common category was family history of breast or ovarian cancer within third-degree relatives. We found that 202 patients (23%) had family history of breast or ovarian cancer. In addition, the progression-free survival was significantly lower in triple-negative breast cancer patients aged 60 years or younger compared with the other patients (P = 0.0005). Conclusion The genetic medicine for primary breast cancer patients with BRCA1/2 germline mutation is accelerating rapidly in Japan. Therefore, establishing a system for the genetic medicine would be urgent.

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“…In this Asian cohort, we found a high rate of BRCA1/2 mutations (40.0%) among those with a family history of breast/ovarian cancer compared with 5.6% among patients with no family history. Although the prognosis of these women was not assessed, their outcomes may be worse than those women without gBRCA1/2 mutations [25] and women without a family history of breast/ovarian cancer [26]. Considering that BRCA1/2 mutations are also found in patients with no family history (5.6% in the Asian cohort), genetic testing will help to determine appropriate treatment options for , the current results suggest that some patients with BRCA1/2 mutations are overlooked based on these criteria.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study

Koh

Ohsumi

Takahashi³

et al. 2021

Breast Cancer

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Background The multinational BREAKOUT study (NCT03078036) sought to determine the prevalence of germline BRCA1/2 (gBRCA1/2) and somatic BRCA1/2 (sBRCA1/2) mutations and mutations in other homologous recombination repair (HRR) genes in women with HER2-negative metastatic breast cancer (MBC) starting first-line chemotherapy. Methods Genetic testing for gBRCA, sBRCA, and HRR gene mutations was performed in patients who started first-line chemotherapy for MBC in the last 90 days (341 patients across 14 countries) who were not selected based on risk factors for gBRCA mutations. We report data from the Asian cohort, which included patients in Japan (7 sites), South Korea (10 sites), and Taiwan (8 sites). Results Of 116 patients screened, 104 patients were enrolled in the Asian cohort. The median age was 53.0 (range 25–87) years. gBRCA1/2, gBRCA1, and gBRCA2 mutations were detected in 10.6% (11/104), 5.8% (6/104), and 4.8% (5/104) of patients, respectively; none had mutations in both gBRCA1 and gBRCA2. gBRCA1/2 mutations were detected in 10.0% (6/60) and 11.6% (5/43) of patients with hormone receptor-positive and triple-negative MBC, respectively. HRR gene mutations were tested in 48 patients without gBRCA mutations, and 5 (10.4%) had at least one HRR mutation in sBRCA, ATM, PALB2, and CHEK2. Conclusion We report for the first time the prevalence of gBRCA and HRR mutations in an Asian cohort of patients with HER2-negative MBC. Our results suggest that BRCA mutation testing is valuable to determine appropriate treatment options for patients with hormone receptor-positive or triple-negative MBC. Study registration NCT03078036.

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BRCAness Combined With a Family History of Cancer Is Associated With a Poor Prognosis for Breast Cancer Patients With a High Risk of BRCA Mutations

Abstract: Our findings suggest that BRCAness tumors with a positive FH of cancer were associated with a poor prognosis in the BRCA-mutation high-risk group. We propose that BRCAness and a positive FH will serve to predict patients' prognosis.

Cited by 7 publications

References 38 publications

Prognostic Prediction of BRCA Mutations by <sup>18</sup>F-FDG PET/CT SUV<sub>max</sub> in Breast Cancer

Prognostic Prediction of BRCA Mutations by <sup>18</sup>F-FDG PET/CT SUV<sub>max</sub> in Breast Cancer

Genetic medicine is accelerating in Japan

Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study

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