Breast Cancer Risk Assessment: Moving Beyond BRCA 1 and 2

Scalia-Wilbur, Jennifer; Colins, Bradley L.; Penson, Richard T.; Dizon, Don S.

doi:10.1016/j.semradonc.2015.09.004

Cited by 23 publications

(11 citation statements)

References 30 publications

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“…Most BC cases are sporadic, while 5 to 10% of all BC cases are inherited and cluster in families [ 1 ]. While mutations in BRCA1 and BRCA2 genes explain 16–40% of all familial BC cases [ 1 – 3 ], other genes have also been found to increase BC susceptibility, which highlights the polygenic nature of many BC cases [ 4 ]. Some of these genes including CDH1 , TP53 , PTEN and STK11, although less frequently altered compared to the BRCA1/2 genes, they have been linked to high-penetrance autosomal dominant BC [ 5 – 7 ].…”

Section: Introductionmentioning

confidence: 99%

Next-generation sequencing in familial breast cancer patients from Lebanon

et al. 2017

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BackgroundFamilial breast cancer (BC) represents 5 to 10% of all BC cases. Mutations in two high susceptibility BRCA1 and BRCA2 genes explain 16–40% of familial BC, while other high, moderate and low susceptibility genes explain up to 20% more of BC families. The Lebanese reported prevalence of BRCA1 and BRCA2 deleterious mutations (5.6% and 12.5%) were lower than those reported in the literature.MethodsIn the presented study, 45 Lebanese patients with a reported family history of BC were tested using Whole Exome Sequencing (WES) technique followed by Sanger sequencing validation.ResultsNineteen pathogenic mutations were identified in this study. These 19 mutations were found in 13 different genes such as: ABCC12, APC, ATM, BRCA1, BRCA2, CDH1, ERCC6, MSH2, POLH, PRF1, SLX4, STK11 and TP53.ConclusionsIn this first application of WES on BC in Lebanon, we detected six BRCA1 and BRCA2 deleterious mutations in seven patients, with a total prevalence of 15.5%, a figure that is lower than those reported in the Western literature. The p.C44F mutation in the BRCA1 gene appeared twice in this study, suggesting a founder effect. Importantly, the overall mutation prevalence was equal to 40%, justifying the urgent need to deploy WES for the identification of genetic variants responsible for familial BC in the Lebanese population.Electronic supplementary materialThe online version of this article (doi:10.1186/s12920-017-0244-7) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

Next-generation sequencing in familial breast cancer patients from Lebanon

et al. 2017

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“…In the United States, it is estimated that there were about 230,000 breast cancer patients with invasive diseases with more than 40,000 deaths in 2015 [1,2]. Although the number of breast cancer deaths has fallen over the past 15 years, it remains the most common serious threat to human health and the second leading cause of cancer deaths among women.…”

Section: Introductionmentioning

confidence: 99%

Sulforaphene inhibits triple negative breast cancer through activating tumor suppressor Egr1

Yang

Teng

et al. 2016

Breast Cancer Res Treat

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Sulforaphene (SFE, 4-methylsufinyl-3-butenyl isothiocyanate) is a member of isothiocyanates, which is derived from radish seeds. It has shown that multiple isothiocyanates, such as sulforaphane, can effectively inhibit cancer cell proliferation in vitro and in vivo. However, it is still largely unknown if SFE could impact breast cancer. In this study, we investigated the anticancer effects of SFE on triple negative breast cancer (TNBC) via a series of in vitro and in vivo assays. We found that SFE can significantly inhibit cell proliferation in multiple TNBC cell lines through inducing G2/M phase arrest as well as cell apoptosis. Nude mice xenograft assays support the anti-TNBC role of SFE in vivo. Interestingly, SFE can repress expression of cyclinB1, Cdc2, and phosphorylated Cdc2, and, then, induced G2/M phase arrest of TNBC cells. To identify SFE target genes, we detected genome-wide gene expression changes through gene expression profiling and observed 27 upregulated and 18 downregulated genes in MDA-MB-453 cells treated with SFE. Among these genes, Egr1 was successfully validated as a consistently activated gene after SFE treatment in TNBC MDA-MB-453 and MDA-MB-436 cells. Egr1 overexpression inhibited proliferation of TNBC cells. However, Egr1 knockdown using siRNAs significantly promoted TNBC cell growth, indicating the tumor suppressor nature of Egr1. In sum, we for the first time found that SFE might be a potential anti-TNBC natural compound and its antiproliferation effects might be mediated by tumor suppressor Egr1.

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“…Рак яичников (РЯ) наряду со злокачественными опухолями шейки и тела матки является одним из распространенных заболеваний онкологической природы [1]. Карцинома яичников составляет 6-8 % из числа всех онкологических заболеваний и 20-25 % среди злокачественных опухолей женских половых органов.…”

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