Hereditary breast and ovarian cancer susceptibility genes (Review)

Kobayashi, Hiroshi; Ohno, Sumire; Sasaki, Yasutaka; Matsuura, Miyuki

doi:10.3892/or.2013.2541

Cited by 138 publications

(108 citation statements)

References 68 publications

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“…Recently, it was observed that BRCA1 mutation carriers have longer telomeres than their non-mutation carriers [98]. Moreover, BRCA1 is repeatedly absent or significantly decreased in sporadic breast cancer [99]. Given BRCA1 protein’s newly identified role in telomere regulation [41], its preferential binding to quadruplex DNA may indicate an important role in processes which are associated with quadruplex formation in the genome.…”

Section: Proteins Involved In Interactions With Quadruplex Dnamentioning

confidence: 99%

DNA and RNA Quadruplex-Binding Proteins

Brázda

Hároníková

Liao

et al. 2014

IJMS

225

195

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Four-stranded DNA structures were structurally characterized in vitro by NMR, X-ray and Circular Dichroism spectroscopy in detail. Among the different types of quadruplexes (i-Motifs, minor groove quadruplexes, G-quadruplexes, etc.), the best described are G-quadruplexes which are featured by Hoogsteen base-paring. Sequences with the potential to form quadruplexes are widely present in genome of all organisms. They are found often in repetitive sequences such as telomeric ones, and also in promoter regions and 5' non-coding sequences. Recently, many proteins with binding affinity to G-quadruplexes have been identified. One of the initially portrayed G-rich regions, the human telomeric sequence (TTAGGG)n, is recognized by many proteins which can modulate telomerase activity. Sequences with the potential to form G-quadruplexes are often located in promoter regions of various oncogenes. The NHE III1 region of the c-MYC promoter has been shown to interact with nucleolin protein as well as other G-quadruplex-binding proteins. A number of G-rich sequences are also present in promoter region of estrogen receptor alpha. In addition to DNA quadruplexes, RNA quadruplexes, which are critical in translational regulation, have also been predicted and observed. For example, the RNA quadruplex formation in telomere-repeat-containing RNA is involved in interaction with TRF2 (telomere repeat binding factor 2) and plays key role in telomere regulation. All these fundamental examples suggest the importance of quadruplex structures in cell processes and their understanding may provide better insight into aging and disease development.

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Section: Proteins Involved In Interactions With Quadruplex Dnamentioning

confidence: 99%

DNA and RNA Quadruplex-Binding Proteins

Brázda

Hároníková

Liao

et al. 2014

IJMS

225

195

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“…Breast Cancer Susceptibility Gene List [8,9,11,13,17,19,20], [35][36][37][38][39][40][41][42][43][44][45][46][47] …”

Section: Additional Filementioning

confidence: 99%

Clinical and genetic characterization of hereditary breast cancer in a Chinese population

Jian

Shao

Qin

et al. 2017

Hered Cancer Clin Pract

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Background: Breast cancer develops as a result of multiple gene mutations in combination with environmental risk factors. Causative variants in genes such as BRCA1 and/or BRCA2 have been shown to account for hereditary nature of certain breast cancers. However,other genes, such as ATM, PALB2, BRIP1, CHEK, BARD1, while lower in frequency, may also increase breast cancer risk. There are few studies examining the role of these causative variants. Our study aimed to examine the clinical and genetic characterization of hereditary breast cancer in a Chinese population. Methods: We tested a panel of 27 genes implicated in breast cancer risk in 240 participants using Next-Generation Sequencing. The prevalence of genetic causative variants was determined and the association between causative variants and clinico-pathological characteristics was analyzed. Results: Causative variant rate was 19.2% in the breast cancer (case) group and 12.5% in the high-risk group. In the case group 2.5% of patients carried BRCA1 causative variant, 7.5% BRCA2 variants, 1.7% patients had MUTYH, CHEK or PALB2 variants, and 0.8% patients carried ATM, BARD1, NBN, RAD51C or TP53 variants. In the high-risk group 5. 8% women carried MUTYH causative variants, 2.5% had causative variants in ATM, 1.7% patients had variants in BRCA2 and 0.8% in BARD1, BRIP1 or CDH1. There was no significant difference in the presence of causative variants among clinical stages of breast cancer, tumor size and lymph nodes status. However, eight of the 12 BRCA1/2 causative variants were found in the TNBC group. Conclusions: We found increased genetic causative variants in the familial breast cancer group and in high-risk women with a family history of breast cancer. However, the variant MUTYH c.892-2A > G may not be directly associated with hereditary breast carcinoma.

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“…Lynch syndrome increases the risk for CRC (lifetime risk=70-80%), and endometrial (50-60%), stomach (13-19%) and ovarian (9-14%) cancer, and of the small intestine, biliary tract, and brain, as well as carcinoma of the ureters and renal pelvis (21). Nowadays, most patients with Lynch syndrome have been identified following investigation because of their family or personal history of multiple or early-onset cancer (4).…”

Section: Lynch Syndromementioning

confidence: 99%