Proceedings of The 1st International Electronic Conference on Cancers: Exploiting Cancer Vulnerability by Targeting the DNA Damage Response最新文献

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Abstract IA19: Homologous recombination repair deficiency and breast cancer progression in high-risk populations 【摘要】高危人群的同源重组修复缺陷与乳腺癌进展

Proceedings of The 1st International Electronic Conference on Cancers: Exploiting Cancer Vulnerability by Targeting the DNA Damage Response Pub Date : 2018-08-01 DOI: 10.1158/1557-3125.ADVBC17-IA19

O. Olopade

{"title":"Abstract IA19: Homologous recombination repair deficiency and breast cancer progression in high-risk populations","authors":"O. Olopade","doi":"10.1158/1557-3125.ADVBC17-IA19","DOIUrl":"https://doi.org/10.1158/1557-3125.ADVBC17-IA19","url":null,"abstract":"Analysis of cancer genomes has rapidly become an integral part of the practice of clinical oncology, with implications for diagnosis, prognosis, treatment, and prevention. Inherited and sporadic cancers often share common mutational events. When inherited mutations are identified, genetic counseling is an essential component of care. Pathogenic BRCA1 and BRCA2 mutations are the strongest predictors of breast cancer risk and may be the strongest predictors of other inherited forms of solid tumors and hematologic malignancies as well. Waiting to treat advanced breast cancer with targeted therapies is a failure of primary prevention, and population-based strategies for risk management in high-risk populations will be needed. Understanding breast cancer progression in genetic defined subgroups has the potential to accelerate progress in precision medicine. I will discuss ongoing research in our group, our recent findings in defining the genomic landscape of early-onset breast cancer, and future directions for the early detection, treatment, and prevention of breast cancer in high-risk populations. Citation Format: Olufunmilayo I. Olopade. Homologous recombination repair deficiency and breast cancer progression in high-risk populations [abstract]. In: Proceedings of the AACR Special Conference: Advances in Breast Cancer Research; 2017 Oct 7-10; Hollywood, CA. Philadelphia (PA): AACR; Mol Cancer Res 2018;16(8_Suppl):Abstract nr IA19.","PeriodicalId":20534,"journal":{"name":"Proceedings of The 1st International Electronic Conference on Cancers: Exploiting Cancer Vulnerability by Targeting the DNA Damage Response","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89828999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Abstract IA20: A coding region variant in the TP53 tumor-suppressor gene may underlie cancer disparities in African Americans 摘要:肿瘤抑制基因TP53的编码区变异可能是非洲裔美国人癌症差异的基础

Proceedings of The 1st International Electronic Conference on Cancers: Exploiting Cancer Vulnerability by Targeting the DNA Damage Response Pub Date : 2018-08-01 DOI: 10.1158/1557-3125.ADVBC17-IA20

M. Murphy

{"title":"Abstract IA20: A coding region variant in the TP53 tumor-suppressor gene may underlie cancer disparities in African Americans","authors":"M. Murphy","doi":"10.1158/1557-3125.ADVBC17-IA20","DOIUrl":"https://doi.org/10.1158/1557-3125.ADVBC17-IA20","url":null,"abstract":"In addition to being frequently mutated in sporadic cancer, the p53 tumor suppressor also contains several coding region variants that alter function and can contribute to increased cancer risk. We previously published that the Pro47Ser variant of p53 exists in approximately 1-2% of individuals of African descent, and that this variation prevents a key phosphorylation event on p53, and reduces the ability of this protein to induce cell death (1). We recently published a mouse model for this variant, and show that this mouse develops a striking incidence of sporadic cancer, predominantly hepatocellular cancer but also including cancers of the pancreas, stomach, and intestine. In a cohort of African American women with breast cancer, we found evidence for an association of Pro47Ser with pre-menopausal cancer incidence (HR 1.7, p 1. Li X, Dumont P, Della Pietra A, Shetler C, Murphy ME. The codon 47 polymorphism in p53 is functionally significant. J Biol Chem 2005;280(25):24245-51. PubMed PMID: 15851479. 2. Murphy ME, Liu S, Yao S, et al. A functionally significant SNP in TP53 and breast cancer risk in African-American women. NPJ Breast Cancer 2017;3:5. PubMed Central PMCID: PMC5445618. 3. Jennis M, Kung CP, Basu S, et al. An African-specific polymorphism in the TP53 gene impairs p53 tumor suppressor function in a mouse model. Genes Dev 2016;30(8):918-30. PubMed Central PMCID: PMC4840298. 4. Basu S, Barnoud T, Kung CP, Reiss M, Murphy ME. The African-specific S47 polymorphism of p53 alters chemosensitivity. Cell Cycle 2016;15(19):2557-60. PubMed Central PMCID: PMC5053554. Citation Format: Maureen E. Murphy. A coding region variant in the TP53 tumor-suppressor gene may underlie cancer disparities in African Americans [abstract]. In: Proceedings of the AACR Special Conference: Advances in Breast Cancer Research; 2017 Oct 7-10; Hollywood, CA. Philadelphia (PA): AACR; Mol Cancer Res 2018;16(8_Suppl):Abstract nr IA20.","PeriodicalId":20534,"journal":{"name":"Proceedings of The 1st International Electronic Conference on Cancers: Exploiting Cancer Vulnerability by Targeting the DNA Damage Response","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2018-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73823346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

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