Beyond BRCA: New hereditary breast cancer susceptibility genes

Economopoulou, Panagiota; Dimitriadis, Georgios; Psyrri, Amanda

doi:10.1016/j.ctrv.2014.10.008

Cited by 187 publications

(180 citation statements)

References 91 publications

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“…In women with BC, about 1 in 10 cases represents a form of hereditary BC (Fig. 3) 61,62 ; however, in young patients, this genetic susceptibility may be higher. Predisposing gene mutations can be classified according to the relative risk (RR) of developing cancer when a patient carries a particular germline mutation.…”

Section: Germline Genomic Profile In Ywbc Bc-predisposing Gene Mutationsmentioning

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

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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.

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Section: Germline Genomic Profile In Ywbc Bc-predisposing Gene Mutationsmentioning

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

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“…7 Other high-risk susceptibility genes such as TP53, PTEN, CDH1, STK11 and PALB2 have been identified, as well as a number of intermediate-risk genes such as ATM, CHEK2, NBN and NF1, and close to 100 low-risk alleles. 8,9 Despite this, all in all, only about 50% of the excess risk is explained today. Evidence is starting to emerge that some breast cancer genes may harbour different types of variants with inversely correlated cancer risks and allele frequencies: for example, BRCA2 and TP53, on top of a myriad of high-risk rare variants, also harbour more frequent variants associated with lower breast cancer risk, p.K3326X 10 and p.R337H, 11 respectively.…”

Section: Introductionmentioning

confidence: 99%

Mutation screening of MIR146A/B and BRCA1/2 3′-UTRs in the GENESIS study

et al. 2016

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Although a wide number of breast cancer susceptibility alleles associated with various levels of risk have been identified to date, about 50% of the heritability is still missing. Although the major BRCA1 and BRCA2 genes are being extensively screened for truncating and missense variants in breast and/or ovarian cancer families, potential regulatory variants affecting their expression remain largely unexplored. In an attempt to identify such variants, we focused our attention on gene regulation mediated by microRNAs (miRs). We screened two genes, MIR146A and MIR146B, producing miR-146a and miR-146b-5p, respectively, that regulate BRCA1, and the 3ʹ-untranslated regions (3ʹ-UTRs) of BRCA1 and BRCA2 in the GENESIS French national case/control study (BRCA1-and BRCA2-negative breast cancer cases with at least one sister with breast cancer and matched controls). We identified one rare variant in MIR146A, four in MIR146B, five in BRCA1 3ʹ-UTR and one in BRCA2 3ʹ-UTR in 716 index cases and 619 controls. Among these 11 rare variants, 7 were identified each in 1 index case. None of the three relevant MIR146A/MIR146B variants affected the pre-miR sequences. The potential causality of the four relevant BRCA1/BRCA2 3ʹ-UTRs variants was evaluated with luciferase reporter assays and co-segregation studies, as well as with bioinformatics analyses to predict miRs-binding sites, RNA secondary structures and RNA accessibility. This is the first study to report the screening of miR genes and of BRCA2 3ʹ-UTR in a large series of familial breast cancer cases. None of the variant identified in this study gave convincing evidence of potential pathogenicity.

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“…In fact, the number of potentially hereditable and deleterious genes that are recognized has grown considerably [9][10][11][12].…”

Section: Opinionmentioning

confidence: 99%

Unrecognized Familial Cancer Syndromes in Hospice Patients - A Precious, but Fleeting Opportunity for Recognition and Testing

Homler¹,

Smith²

2017

J Palliat Care Med

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Beyond BRCA: New hereditary breast cancer susceptibility genes

Cited by 187 publications

References 91 publications

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

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

Mutation screening of MIR146A/B and BRCA1/2 3′-UTRs in the GENESIS study

Unrecognized Familial Cancer Syndromes in Hospice Patients - A Precious, but Fleeting Opportunity for Recognition and Testing

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