Impact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer

Hagio, Kanako; Amano, Toraji; Hayashi, Hideyuki; Terauchi, Takashi; Oshino, Tomohiro; Kikuchi, Junko; Ohhara, Yoshihito; Yabe, Ichiro; Kinoshita, Ichiro; Nishihara, Hiroshi; Yamashita, Hiroko

doi:10.1038/s41598-021-87645-6

Cited by 6 publications

(3 citation statements)

References 55 publications

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“…Studies list PIK3CA mutations among the less frequent mutations in younger women than in older ones. In fact, for advanced BCa, PIK3CA mutations are regarded as poor prognostic factors when compared against early BCa [25,26]. On the contrary, the current study detected PIK3CA mutations more frequently in younger patients in the premenopausal period.…”

Section: Discussioncontrasting

confidence: 75%

Variation Analysis in Premenopausal and Postmenopausal Breast Cancer Cases

Erdogdu,

Orenay-Boyacioglu,

Boyacioglu

et al. 2024

JPM

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Menopausal status affects the prognoses and consequences of breast cancer. Therefore, this retrospective study aimed to reveal the molecular variation profile differences in breast cancer patients according to their menopausal status, with the hypothesis that the molecular variation profiles will be different at premenopausal and postmenopausal ages. Breast cancer patients (n = 254) who underwent molecular subtyping and QIAseq Human Breast Cancer NGS Panel screening between 2018 and 2022 were evaluated retrospectively. Their menopausal status was defined by age, and those aged 50 years and above were considered postmenopausal. Of the subjects, 58.66% (n = 149) were premenopausal and 41.34% (n = 105) were postmenopausal. The mean age at the time of diagnosis for all patients was 49.31 ± 11.19 years, with respective values of 42.11 ± 5.51 and 59.54 ± 9.01 years for the premenopausal and postmenopausal groups, respectively (p = 0.000). Among premenopausal patients, the percentages of patients in BCa subtypes (luminal A, luminal B-HER2(−), luminal B-HER2(+), HER2 positive, and triple-negative) were determined to be 34.90%, 8.05%, 26.17%, 10.74%, and 20.13%, respectively, while in the postmenopausal group, these values were 39.05%, 16.19%, 24.76%, 6.67%, and 13.33%, respectively (p > 0.05). Considering menopausal status, the distribution of hormone receptors in premenopausal patients was ER(+)/PgR(+) 63.76%, ER(−)/PgR(−) 23.49%, ER(+)/PgR(−) 10.74%, and ER(−)/PgR(+) 2.01%, respectively, while in postmenopausal women, this distribution was observed to be 74.29%, 23.81%, 1.90% and 0.00% in the same order (p = 0.008). The most frequently mutated gene was TP53 in 130 patients (51.18%), followed by PIK3CA in 85 patients (33.46%), BRCA2 and NF1 in 56 patients (22.05%), PTEN in 54 patients (21.26%), and ATR and CHEK2 in 53 patients (20.87%). TP53, PIK3CA, NF1, BRCA2, PTEN, and CHEK2 mutations were more frequently observed in premenopausal patients, while TP53, PIK3CA, BRCA2, BRCA1, and ATR mutations in postmenopausal patients. These findings contribute to a deeper understanding of the underlying causes of breast cancer with respect to menopausal status. This study is the first from Turkey that reflects the molecular subtyping and somatic mutation profiles of breast cancer patients according to menopausal status.

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Section: Discussioncontrasting

confidence: 75%

Variation Analysis in Premenopausal and Postmenopausal Breast Cancer Cases

Erdogdu,

Orenay-Boyacioglu,

Boyacioglu

et al. 2024

JPM

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“…[ 1 ] There are several reports that have shown PIK3CA mutations to be associated with prognosis, with some showing better clinical outcomes than PIK3CA wild-type, [ 20 ] while others report a poor prognosis. [ 3 , 21 ] In our study, PIK3CA mutations were associated with longer DFS than PIK3CA wild-type. PIK3CA mutations were also associated with relatively low Ki-67 levels, low histological grades, and hormone receptor positivity, and relatively few TNBC-type breast cancers were reported in this group.…”

Section: Discussionsupporting

confidence: 49%

Prognostic significance of TP53 and PIK3CA mutations analyzed by next-generation sequencing in breast cancer

Choi,

Yu,

Jung

et al. 2023

Medicine

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Breast cancer is one of the most prevalent malignant tumors affecting women globally. It is a heterogeneous disease characterized by mutations in several genes. Several gene panels have been applied to assess the risk of breast cancer and determine the appropriate treatment. As a powerful tool, Next-generation sequencing (NGS) has been widely utilized in cancer research due to its advantages, including high speed, high throughput, and high accuracy. In this study, we aim to analyze the correlation between somatic mutations in breast cancer, analyzed using NGS, and the prognosis of patients. Between May 2018 and May 2019, a total of 313 patients with breast cancer underwent surgical treatment, which included total mastectomy and breast-conserving surgery. Among these patients, 265 were diagnosed with invasive ductal carcinoma. In this study, we analyzed the NGS results, clinicopathological characteristics, and their correlation with prognosis. Using a gene panel, we examined 143 somatic mutations in solid cancers. Notably, the study population included patients who had received neoadjuvant chemotherapy. The mean age of the patients was 53.1 (±10.28) years, and the median follow-up time was 48 months (range, 8–54). Among the 265 patients, 68 had received prior systemic therapy. Of these, 203 underwent breast-conserving surgery, and 62 underwent a mastectomy. Various somatic mutations were observed in NGS, with the most frequent mutation being PIK3CA mutations, which accounted for 44% of all mutations. TP53 mutations were the second most frequent, and ERBB2 mutations were the third most frequent. TP53 mutations were associated with poor disease-free survival (P = .027), while PIK3CA mutations were associated with better disease-free survival (P = .035) than PIK3CA wild-type. In our study, we identified various somatic mutations in breast cancer. Particularly, we found that TP53 and PIK3CA mutations are potentially associated with the prognosis of breast cancer. These findings suggest that the presence of specific mutations may have implications for predicting the prognosis of breast cancer. Further research and validation are needed to gain a deeper understanding of the role of these mutations and their mechanisms in prognosis prediction.

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“…We have performed a targeted amplicon exome sequencing for 160 cancer-related genes using genomic DNA from both tumor tissue and blood at our hospital. The clinical utility of our genomic testing for patients with meningioma [16], thyroid carcinoma [17], sinonasal papilloma [18], pancreatic cancer [19], various cancers such as colorectal, stomach, and lung cancers [20], and breast cancer [21] was shown previously.…”

Section: Introductionsupporting

confidence: 54%