Somatic mutations in breast and serous ovarian cancer young patients: a systematic review and meta-analysis

Encinas, Giselly; Maistro, Simone; Pasini, Fátima Solange; Katayama, Maria Lúcia Hirata; Brentani, Maria Mitzi; Bock, Geertruida H. de; Folgueira, Maria Aparecida Azevedo Koike

doi:10.1590/1806-9282.61.05.474

Cited by 20 publications

(23 citation statements)

References 75 publications

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“…In BC, the most frequently mutated genes are PIK3CA (25%), TP53 (23%), CDH1 (11%), GATA3 (7%), and PTEN (5%) 54,55 . In YWBC, Encinas et al 56 performed a systematic review to analyze whether somatic mutations in five genes were associated with an early age at presentation of BC. They found a higher frequency of wild-type PIK3CA associated with early-onset BC, although not statistically significant when employing a multivariate model.…”

Section: Somatic Mutation Profile In Ywbcmentioning

confidence: 99%

“…They found a higher frequency of wild-type PIK3CA associated with early-onset BC, although not statistically significant when employing a multivariate model. Moreover, TP53 was mutated in 20% of tumors from both younger and older patients 56 . Azim et al 29 examined the genomic aberrations of tumors from three different age groups, ≤45 (125 patients), 46-69 (486 patients), and ≥70 (169 patients) years of age.…”

Section: Somatic Mutation Profile In Ywbcmentioning

confidence: 99%

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Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To Dna Mutations

Gómez-Flores-Ramos¹,

Castro-Sánchez

Peña-Curiel

et al. 2017

RIC

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Young women with breast cancer (YWBC) represent roughly 15% of breast cancer (BC) cases in Latin America and other developing regions. Breast tumors occurring at an early age are more aggressive and have an overall worse prognosis compared to breast tumors in postmenopausal women. The expression of relevant proliferation biomarkers such as endocrine receptors and human epidermal growth factor receptor 2 appears to be unique in YWBC. Moreover, histopathological, molecular, genetic, and genomic studies have shown that YWBC exhibit a higher frequency of aggressive subtypes, differential tumor gene expression, increased genetic susceptibility, and specific genomic signatures, compared to older women with BC. This article reviews the current knowledge on tumor biology and genomic signatures in YWBC.

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Section: Somatic Mutation Profile In Ywbcmentioning

confidence: 99%

Section: Somatic Mutation Profile In Ywbcmentioning

confidence: 99%

Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To Dna Mutations

Gómez-Flores-Ramos¹,

Castro-Sánchez

Peña-Curiel

et al. 2017

RIC

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“…Mutations in Ras, PI3 K/AKT, and mammalian target of rapamycin pathways can lead to unrestricted tumor cell growth [30]. Encinas G et al and his colleagues reported a somatic mutation in tyrosine kinases, which can constitutively activate the PI3 K/AKT pathway in breast cancer leading to increased productivity of the mammalian target of rapamycin pathway, revealing that targeted therapies with mammalian target of rapamycin inhibitors could be considered in such cases [31]. Our study reports a 33 % PIK3CA mutation rate in small cell carcinoma of the breast, which could lead to the consideration of the use of mammalian target of rapamycin inhibitors as a potential therapeutic agent in small cell carcinoma of the breast, but further studies are needed.…”

Section: Discussionmentioning

confidence: 99%

Genomic landscape of small cell carcinoma of the breast contrasted to small cell carcinoma of the lung

McCullar

Pandey

Yaghmour

et al. 2016

Breast Cancer Res Treat

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Small cell carcinoma of the breast is a rare, aggressive form of breast cancer that is associated with extremely poor outcomes [1]. In an effort to identify possible targets for treatment, we utilized comprehensive genomic profiling in small cell carcinoma of the breast. Under an IRB approved protocol, we identified patients with small cell carcinoma of the breast and small cell carcinoma of the lung profiled by Caris Life Sciences between 2007 and 2015. Tumors were assessed with up to 25 immunohistochemical stains, in situ hybridization of cMET, EGFR, HER2, PIK3CA, and TOP2A, and next generation sequencing as well as Sanger sequencing of 47 genes. 19 patients with small cell carcinoma of the breast were identified, median age was 58 years (range 37-79) and 42 % had metastatic disease at presentation; for comparison, 58 patients with small cell carcinoma of the lung were identified (66 [36-86], 65 % metastatic). By immunohistochemistry, 31 % of small cell carcinoma of the breast patients expressed ER, 13 % expressed PR, and 16 % expressed AR; small cell carcinoma of the lung patients expressed ER 0 %, PR 2 %, and AR 6 %. Small cell carcinoma of the breast and small cell carcinoma of the lung patients had similar patterns of other immunohistochemical expression (0 v 0 % PDL1, 50 v 42 % PD1, and 77 v 95 % TOP2A, respectively). All small carcinoma of the breast and small cell carcinoma of the lung patients were negative for HER2 and cMET amplification by in situ hybridization. Next generation sequencing revealed TP53 mutations in 75 % of patients both with small cell carcinoma of the breast and small cell carcinoma of the lung and PIK3CA mutations in 33 % of small cell carcinoma of the breast patients but no small cell carcinoma of the lung patients (Fisher's exact test p = 0.005, OR 0.02 [0.00-0.52]). No other mutations were found in small cell carcinoma of the breast patients and no other mutation occurred in over 10 % of small cell carcinoma of the lung patients except RB1 in 19 % (p = 0.31). Small cell carcinoma of the breast is an aggressive tumor with few therapeutic options. Molecular profiling suggests many similarities between small cell carcinoma of the breast and small cell carcinoma of the lung with the exception an increased incidence of PIK3CA mutations in small cell carcinoma of the breast, which may have therapeutic implications.

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“…17 Our results have potential clinical utility, as low expression of ALDH5A1 was associated with a worse OS inTP53 mutation-type SOC patients. Thus, the significance of the correlation between p53 and individual ALDH5A1 in OC should be further analyzed.…”

Section: Discussionmentioning

confidence: 64%

Decreased expression of ALDH5A1 predicts prognosis in patients with ovarian cancer

Tian

Han

et al. 2017

Cancer Biology & Therapy

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Aldehyde dehydrogenase 5 family, member A1 (ALDH5A1) belongs to the superfamily of aldehyde dehydrogenases (ALDHs). However, the prognostic value of ALDH5A1 in ovarian cancer remains unclear. The aim of this study was to explore the relationship between ALDH5A1 and the prognosis of patients with ovarian cancer (OC). We compared the expression of ALDH5A1 in OC to that innormal controls, using GSE40595 profiling data. Tissue microarray analysis was conducted for192 OC patients, 14 adjacent normal ovary tissues, and 2 normal ovary tissues. Using the "Kaplan-Meier plotter" (KM plotter) database, updated gene expression data and survival information of a total of 1583 OC patients were used to evaluate the prognostic value of ALDH5A1 in OC patients. We found that ALDH5A1 mRNA expression was downregulated in OC patients compared with that innormal tissues. In survival analyses, we found that ALDH5A1 was positively linked to prognosis in patients with OC, particularly in those with serous ovarian cancer (SOC). In addition, high Ctranscription activity of ALDH5A1 was correlated with better overall survival in SOC patients expressing mutatedTP53, but not in those expressing wild-type TP53. In pathological grades II/III, a high mRNA level of ALDH5A1 was associated with improved overall survival. The positive association between ALDH5A1 and prognosis was found not only in early stages(I and II), but also in advanced stages (III and IV) of SOC patients. results indicate that ALDH5A1 is an excellent predictive factor of OC and may play crucial roles in OC progression.

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Somatic mutations in breast and serous ovarian cancer young patients: a systematic review and meta-analysis

Cited by 20 publications

References 75 publications

Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To Dna Mutations

Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To Dna Mutations

Genomic landscape of small cell carcinoma of the breast contrasted to small cell carcinoma of the lung

Decreased expression of ALDH5A1 predicts prognosis in patients with ovarian cancer

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