The Spectrum of Genetic Mutations in Breast Cancer

Sheikh, A; Hussain, Syed Ather; Ghori, Quratulain; Naeem, Nida; Fazil, Abul; Giri, Smith; Sathian, Brijesh; Mainali, Prajeena; Tamimi, Dalal M. Al

doi:10.7314/apjcp.2015.16.6.2177

Cited by 72 publications

(59 citation statements)

References 112 publications

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“…Here, we reported that the tracking of MYC expression in CTCs was feasible and it might be of interest in BC patients, in agreement with Reinhardt and colleagues, who described high MYC expression in CTCs' differential phenotypes in BC [49]. Regarding PALB2 (Partner And Localizer of Breast Cancer Type 2 susceptibility protein (BRCA2)), mutations in this gene have been associated with increased risk of BC [50]. PALB2 acts as a tumor suppressor protein by mediating DNA repair and thereby suppressing genome instability [51].…”

Section: Discussionsupporting

confidence: 87%

CTCs Expression Profiling for Advanced Breast Cancer Monitoring

Pereira-Veiga¹,

Martínez‐Fernández

Abuín³

et al. 2019

Cancers

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The study of circulating tumor cells (CTCs) has a huge clinical interest in advance and metastatic breast cancer patients. However, many approaches are biased by the use of epithelial markers, which underestimate non-epithelial CTCs phenotypes. CTCs enumeration provides valuable prognostic information; however, molecular characterization could be the best option to monitor patients throughout the disease since it may provide more relevant clinical information to the physicians. In this work, we aimed at enumerating and performing a molecular characterization of CTCs from a cohort of 20 patients with metastatic breast cancer (MBC), monitoring the disease at different time points of the therapy, and at progression when it occurred. To this end, we used a CTC negative enrichment protocol that allowed us to recover a higher variety of CTCs phenotypes. With this strategy, we were able to obtain gene expression data from CTCs from all the patients. In addition, we found that high expression levels of PALB2 and MYC were associated with a worse outcome. Interestingly, we identified that CTCs with an EpCAMhighVIMlowALDH1A1high signature showed both shorter overall survival (OS) and progression-free survival (PFS), suggesting that CTCs with epithelial-stem features had the most aggressive phenotype.

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Section: Discussionsupporting

confidence: 87%

CTCs Expression Profiling for Advanced Breast Cancer Monitoring

Pereira-Veiga¹,

Martínez‐Fernández

Abuín³

et al. 2019

Cancers

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“…2) bedeutend. Im Vergleich zu sporadisch auftretenden Malignomen werden diese in signifikant jüngerem Alter manifest [18]. Frauen mit schwangerschaftsassoziiertem Mammakarzinom tragen insgesamt betrachtet häufiger ebendiese genetischen Prädispositionen in sich als nicht schwangere Frauen aus Vergleichspopulationen [19].…”

Section: Genetikunclassified

Trastuzumab in der Behandlung schwangerer Mammakarzinompatientinnen – ein Literaturüberblick

Goller

Markert

Fröhlich

2019

Senologie - Zeitschrift für Mammadiagnostik und -therapie

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ZusammenfassungDas Mammakarzinom gehört zu den am häufigsten in der Schwangerschaft auftretenden Malignomen. Da Frauen zunehmend erst in fortgeschrittenem Alter gebären, ist anzunehmen, dass die Inzidenz schwangerschaftsassoziierter Mammakarzinome zukünftig weiter steigen wird. Aufgrund schwangerschaftsbedingter Veränderungen und zurückhaltender Diagnostik kommt es häufig dazu, dass diese Karzinome erst in fortgeschrittenen Stadien detektiert werden und somit meist einer systemischen adjuvanten Therapie bedürfen. Verfügbare Daten bezüglich des optimalen chemotherapeutischen Managements sind limitiert. Insbesondere zur Anwendung des Target-Agents Trastuzumab, das in der Therapie des HER2-überexprimierenden Mammakarzinoms der nicht schwangeren Frau einen entscheidenden Beitrag zur Verbesserung der Prognose leisten konnte, fehlen dezidierte Informationen bezüglich des Wirk- und Sicherheitsprofils in der Schwangerschaft sowie auch hinsichtlich etwaiger Langzeiteffekte auf das Kind. Innerhalb der derzeit verfügbaren Literatur konnten 38 Schwangerschaften unter Trastuzumab zur Therapie eines Mammakarzinoms analysiert werden. Es lassen sich daraus Informationen gewinnen und Rückschlüsse ziehen, die zukünftig die Therapieoptionen der schwangeren Mammakarzinompatientin individualisieren und entscheidend verbessern können.

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“…Early menarche and late menopause ensure a longer exposure to the hormone estrogen thus increasing the risk of BC (7). Various studies have identi ed the variations in high penetrant genes like BRCA1, BRCA2, PTEN, TP53, CDH1, and STK11 along with moderate penetrant genes such as CHEK2, BRIP1, ATM and PALB2 (8,9) and their association with BC. There are about 182 loci that have been identi ed and are susceptible to BC (10) which accounts for 30% of the genetic heritability of BC (11).…”

Section: Introductionmentioning

confidence: 99%

MassARRAY-based single nucleotide polymorphism analysis in breast cancer of North Indian Population.

Bakshi

Nagpal

Sharma³

et al. 2020

Preprint

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Background Breast Cancer (BC) is associated with inherited gene mutations. High throughput genotyping of BC samples has led to the identification and characterization of biomarkers for the diagnosis of BC. The most common genetic variants studied are SNPs (Single Nucleotide Polymorphisms) that determine susceptibility to an array of diseases thus serving as a potential tool for identifying the underlying causes of breast carcinogenesis. Methods SNP genotyping employing the Agena MassARRAY offers a robust, sensitive, cost-effective method to assess multiple SNPs and samples simultaneously. In this present study, we analyzed 15 SNPs of 14 genes in 550 samples (150 cases and 400 controls). We identified four SNPs of genes TCF21, SLC19A1, DCC, and ERCC1 showing significant association with BC in the population under study. Results The SNPs were rs12190287 (TCF21) having OR 1.713 (1.08-2.716 at 95% CI) p-value 0.022 (dominant), rs1051266 (SLC19A1) having OR 3.461 (2.136-5.609 at 95% CI) p-value 0.000000466 (dominant), rs2229080 (DCC) having OR 0.6867 (0.5123 -0.9205 at 95% CI) p-value 0.0116 (allelic) and rs2298881 (ERCC1) having OR 0.669 (0.46-0.973 at 95% CI), p-value 0.035 (additive) respectively. The in-silico analysis was further used to fortify the above findings. Conclusion It is further anticipated that the variants should be evaluated in other population groups that may aid in understanding the genetic complexity and bridge the missing heritability.

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The Spectrum of Genetic Mutations in Breast Cancer

Cited by 72 publications

References 112 publications

CTCs Expression Profiling for Advanced Breast Cancer Monitoring

CTCs Expression Profiling for Advanced Breast Cancer Monitoring

Trastuzumab in der Behandlung schwangerer Mammakarzinompatientinnen – ein Literaturüberblick

MassARRAY-based single nucleotide polymorphism analysis in breast cancer of North Indian Population.

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