Microsatellite Instability in Early-onset Breast Cancer

Özer, Erdener; Yüksel, Erdinç; Kızıldağ, Sefa; Sercan, Ogun; Özen, Emek; Canda, Tülay; Sakızlı, Meral

doi:10.1078/0344-0338-00296

Cited by 19 publications

(12 citation statements)

References 16 publications

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“…Because of tumor heterogeneity, the prognosis of different MSI is different. For example, the prognosis of most MSI-H cancer patients is good, while the prognosis of breast cancer [51] and endometrial cancer [67] patients with MSI-H is bad. Besides, early diagnosis can help to take preventive measures for its diseases, such as Lynch syndrome, and early use of aspirin in patients with hMSH2 and hMLH1 gene changes is of great significance to reduce the risk of cancer related to Lynch syndrome [76].…”

Section: Discussionmentioning

confidence: 99%

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Microsatellite instability: a review of what the oncologist should know

et al. 2020

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The patients with high microsatellite instability (MSI-H)/mismatch repair deficient (dMMR) tumors recently have been reported that can benefit from immunotherapy, and MSI can be used as a genetic instability of a tumor detection index. However, many studies have shown that there are many heterogeneous phenomena in patients with MSI tumors in terms of immunotherapy, prognosis and chemotherapy sensitivity. Here we mainly review the research results of MSI detection methods, the mechanisms of MSI occurrence and its relationship with related tumors, aiming to make a brief analysis of the current research status of MSI and provide comparable reference and guidance value for further research in this field.

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Section: Discussionmentioning

confidence: 99%

“…Abida et al [51] found that the prognosis of MSI-H patients with breast cancer is poor, which is different from the relationship between MSI and prognosis of breast cancer. IHC detection of hMSH2, hMLH1 and MSI related loci D3S1766 and D2S2739 can identify MSI related breast cancer [52].…”

Section: Breast Cancermentioning

confidence: 95%

Microsatellite instability: a review of what the oncologist should know

et al. 2020

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“…In addition, women who develop breast carcinoma before age 40 years tend to have tumors that are undifferentiated, more aggressive, and with a higher mitotic rate and tumor grade than women who develop breast carcinoma at an older age 23, 24. Other studies have shown that in this age group, women with breast carcinoma have a higher amplification of oncogenes and a higher accumulation of p53 mutations 22, 25, 26. p53 is a tumor suppressor gene that regulates many DNA repair pathways including the nonhomologous and homologous recombination repair pathways.…”

Section: Discussionmentioning

confidence: 99%

DNA repair and breast carcinoma susceptibility in women

Ramos

Ruiz

Colen

et al. 2004

Cancer

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BACKGROUND Breast carcinoma is the most common cancer and the second leading cause of cancer‐related deaths among women. The disease represents approximately 31% of all cancers in Puerto Rican women. Several DNA repair pathways are involved in preventing carcinogenesis. The current study evaluated the hypothesis that a reduced DNA repair capacity (DRC) is a susceptibility factor for breast carcinoma. METHODS A retrospective case–control clinical study was performed to compare age‐matched DRC in 33 women with histopathologically confirmed breast carcinoma (cases) and 47 cancer‐free women (controls). DRC was measured using a host cell reactivation assay with a luciferase reporter gene and then transfected into human peripheral lymphocytes. A questionnaire was used to solicit breast carcinoma risk factors. RESULTS Women with breast carcinoma had a mean DRC of 5.6% ± 0.5 standard error of the mean (SEM). Cancer cases had a 36% reduction (P < 0.001) in DRC when compared with the control group (DRC = 8.7% ± 0.7 SEM). Younger participants with breast carcinoma were found to have a more significant reduction in DRC when compared with age‐matched controls. Family (odds ratio [OR] = 4.1), maternal lineage (OR = 5.5), and maternal (OR = 12.4) history of breast carcinoma were found to be the only statistically significant (P < 0.05) risk factors associated with the disease. CONCLUSIONS The findings supported the hypothesis that a low DRC is a susceptibility factor for breast carcinoma. A 1% decrease in DRC corresponded to a 22% increase in breast carcinoma risk. To the authors' knowledge, the current study was the first to directly determine the DRC of women with breast carcinoma. Because DRC is an independent risk factor for breast carcinoma, the DRC of women may be a useful marker in predicting susceptibility. Cancer 2004;100:1352–7. © 2004 American Cancer Society.

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“…A study in 16 patients age 35 years or younger also could not identify MSI in 5 MS foci tested and suggested that MSI does not involve in early-onset breast carcinoma. 28 Batistatou et al 29 could not detect any loss of expression of either hMLH1 or hMSH2 in 20 cases of in situ and 40 cases of invasive sporadic breast carcinoma, with IHC analysis by comparing both the percentage and intensity of unclear staining between tumor and normal cells.…”

Section: Mismatch Repair Genes Hmlh1 and Hmsh2 May Not Play An Essential Role In Breast Carcinogenesismentioning

confidence: 96%

Mismatch Repair Genes hMLH1 and hMSH2 May Not Play an Essential Role in Breast Carcinogenesis

et al. 2007

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Breast carcinoma is one of the most common malignancies in women, and its carcinogenesis is still unknown. The role of microsatellite instability (MSI) in breast carcinogenesis has been inconsistent in the literature. Here we studied the expression of 2 mismatch repair genes, hMLH1 and hMSH2, in 211 cases of intraductal (DCIS; 90 cases) and invasive ductal carcinoma (121 cases) of the breast by immunohistochemical analysis; and evaluated its relationship with cytokeratin (CK) subtypes, along with expression of ER-alpha (138 cases positive, 73 cases negative); PR (118 cases positive, 93 cases negative), and HER-2/neu (47 cases positive, 164 cases negative); and clinical features such as patient age (157 cases>50 years, 54 cases<50 years), tumor size (31 cases of IDC>2 cm, 90 cases of IDC<2 cm), tumor grade (87 cases high nuclear grade, 124 case non-high grade), and lymph node metastasis (38 cases of IDC positive, 74 cases of IDC negative, 9 cases of IDC with no available data on lymph node status). For CK subtypes, 167 cases were classified as luminal subtype (expressing CK8 and/or CK18, negative for CK5/6, CK14, and CK17) and 44 cases were classified as nonluminal (most of them belonged to basal/stem subtype, expressing CK5/6, and/or CK14, and/or CK17). No typical or atypical medullary carcinoma was included in this study. Our results showed that no loss of nuclear expression of either hMLH1 or hMSH2 was identified in any of the 211 cases of DCIS or IDC regardless of the various pathological and clinical factors, suggesting that hMLH1 or hMSH2 may not play an essential role in the majority of cases of the breast carcinoma.

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Microsatellite Instability in Early-onset Breast Cancer

Cited by 19 publications

References 16 publications

Microsatellite instability: a review of what the oncologist should know

Microsatellite instability: a review of what the oncologist should know

DNA repair and breast carcinoma susceptibility in women

Mismatch Repair Genes hMLH1 and hMSH2 May Not Play an Essential Role in Breast Carcinogenesis

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