Inherited predisposition to breast cancer among African American women

Churpek, Jane E.; Walsh, Tom; Zheng, Yonglan; Moton, Zakiya; Thornton, Anne; Lee, Ming K.; Casadei, Silvia; Watts, Amanda C.; Neistadt, Barbara; Churpek, Matthew M; Huo, Dezheng; Zvosec, Cecilia; Liu, Fang; Niu, Qun; Márquez, Rafael; Zhang, Jing; Fackenthal, James D.; King, Mary Claire; Olopade, Olufunmilayo I.

doi:10.1007/s10549-014-3195-0

Cited by 122 publications

(104 citation statements)

References 40 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Although this is a region frequently affected in breast cancer irrespective of the molecular subtype and ethnicity [20], it has been observed preferentially amplified in TNBC, including the ones that present BRCA1 mutations [43], which are frequently in AA women [44, 45]. …”

Section: Discussionmentioning

confidence: 99%

Differentially expressed miRNAs in triple negative breast cancer between African-American and non-Hispanic white women

et al. 2016

View full text Add to dashboard Cite

Triple Negative Breast Cancer (TNBC), a clinically aggressive subtype of breast cancer, disproportionately affects African American (AA) women when compared to non-Hispanic Whites (NHW). MiRNAs(miRNAs) play a critical role in these tumors, through the regulation of cancer driver genes. In this study, our goal was to characterize and compare the patterns of miRNA expression in TNBC of AA (n = 27) and NHW women (n = 30). A total of 256 miRNAs were differentially expressed between these groups, and distinct from the ones observed in their respective non-TNBC subtypes. Fifty-five of these miRNAs were mapped in cytobands carrying copy number alterations (CNAs); 26 of them presented expression levels concordant with the observed CNAs. Receiving operating characteristic (ROC) analysis showed a good power (AUC ≥ 0.80; 95% CI) for over 65% of the individual miRNAs and a high combined power with superior sensitivity and specificity (AUC = 0.88 (0.78−0.99); 95% CI) of the 26 miRNA panel in discriminating TNBC between these populations. Subsequent miRNA target analysis revealed their involvement in the interconnected PI3K/AKT, MAPK and insulin signaling pathways. Additionally, three miRNAs of this panel were associated with early age at diagnosis. Altogether, these findings indicated that there are different patterns of miRNA expression between TNBC of AA and NHW women and that their mapping in genomic regions with high levels of CNAs is not merely physical, but biologically relevant to the TNBC phenotype. Once validated in distinct cohorts of AA women, this panel can potentially represent their intrinsic TNBC genome signature.

show abstract

Section: Discussionmentioning

confidence: 99%

Differentially expressed miRNAs in triple negative breast cancer between African-American and non-Hispanic white women

et al. 2016

View full text Add to dashboard Cite

show abstract

“…Recent data found that among high-risk African-American women diagnosed with breast cancer, 22 % tested positive for a gene mutation, 80 % of whom had mutations in the BRCA1/2 genes, while 20 % had mutations in PALB2, CHEK2, BARD1, ATM, PTEN , or TP53 [36]. Interestingly, two studies [37, 38] reported an association between PALB2 mutations and higher incidence of TNBC (30–54 %).…”

Section: Discussionmentioning

confidence: 99%

Deleterious BRCA1/2 mutations in an urban population of Black women

Lynce

Smith

Stein

et al. 2015

Breast Cancer Res Treat

View full text Add to dashboard Cite

Information on the prevalence of deleterious BRCA1 and BRCA2 (BRCA1/2) mutations in clinic-based populations of Black women is limited. In order to address this gap, we performed a retrospective study to determine the prevalence of deleterious BRCA1/2 mutations, predictors of having a mutation, and acceptance of risk-reducing surgeries in Black women. In an urban unselected clinic-based population, we evaluated 211 self-identified Black women who underwent genetic counseling for hereditary breast–ovarian cancer syndrome. BRCA1/2 mutations were identified in 13.4 % of the participants who received genetic testing. Younger age at diagnosis, higher BRCA-PRO score, significant family history, and diagnosis of triple-negative breast cancer were associated with identification of a BRCA1/2 mutation. Of the affected patients found to have a deleterious mutation, almost half underwent prophylactic measures. In our study population, 1 in 7 Black women who underwent genetic testing harbored a deleterious BRCA1/2 mutation independent of age at diagnosis or family history.

show abstract

“…Mutations in the ATM gene have been described in YWBC and are considerably more frequent when there is a familial history [102][103][104][105][106][107] .…”

Section: Atmmentioning

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

View full text Add to dashboard Cite

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.

show abstract

Inherited predisposition to breast cancer among African American women

Cited by 122 publications

References 40 publications

Differentially expressed miRNAs in triple negative breast cancer between African-American and non-Hispanic white women

Differentially expressed miRNAs in triple negative breast cancer between African-American and non-Hispanic white women

Deleterious BRCA1/2 mutations in an urban population of Black women

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

Contact Info

Product

Resources

About