The BRCA1 and BRCA2 Genes in Early-Onset Breast Cancer Patients

Saleem, M.; Ghazali, Mohd Bazli; Wahab, Azlan Mohamed Abdul; Yusoff, Narazah Mohd; Mahsin, Hakimah; Ch’ng, Ewe Seng; Khalid, Imran Abdul; Rahman, Mohd Nor Gohar; Yahaya, Badrul Hisham

doi:10.1007/5584_2018_147

Cited by 10 publications

(6 citation statements)

References 22 publications

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“…Only about 5-10% of BCs are thought to be hereditary [4]. Representatively, inherited mutations in BRCA1 and BRCA2, which have roles in DNA repair, have been known as the most common cause of hereditary BC [5]. In addition to inherited mutations, somatic mutations of dozens of genes, including CCND1, ERBB2, PIK3CA, and PTEN, have been revealed as driver mutations that can lead to functional abnormalities and initiate breast tumorigenesis [6,7].…”

Section: Introductionmentioning

confidence: 99%

Alternative methylation of intron motifs is associated with cancer-related gene expression in both canine mammary tumor and human breast cancer

et al. 2020

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Background: Canine mammary tumor (CMT) has long been considered as a good animal model for human breast cancer (HBC) due to their pathological and biological similarities. However, only a few aspects of the epigenome have been explored in both HBC and CMT. Moreover, DNA methylation studies have mainly been limited to the promoter regions of genes. Results: Genome-wide methylation analysis was performed in CMT and adjacent normal tissues and focused on the intron regions as potential targets for epigenetic regulation. As expected, many tumor suppressors and oncogenes were identified. Of note, most cancer-associated biological processes were enriched in differentially methylated genes (DMGs) that included intron DMRs (differentially methylated regions). Interestingly, two PAX motifs, PAX5 (tumor suppressive) and PAX6 (oncogenic), were frequently found in hyper-and hypomethylated intron DMRs, respectively. Hypermethylation at the PAX5 motifs in the intron regions of CDH5 and LRIG1 genes were found to be anti-correlated with gene expression, while CDH2 and ADAM19 genes harboring hypomethylated PAX6 motifs in their intron region were upregulated. These results were validated from the specimens originally MBD-sequenced as well as additional clinical samples. We also comparatively investigated the intron methylation and downstream gene expression of these genes using human breast invasive carcinoma (BRCA) datasets in TCGA (The Cancer Genome Atlas) public database. Regional alteration of methylation was conserved in the corresponding intron regions and, consequently, gene expression was also altered in HBC. Conclusions: This study provides good evidence for the conservation of epigenetic regulation in CMT and HBC, and suggests that intronic methylation can be an important factor in better understanding gene regulation in both CMT and HBC.

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Section: Introductionmentioning

confidence: 99%

Alternative methylation of intron motifs is associated with cancer-related gene expression in both canine mammary tumor and human breast cancer

et al. 2020

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“…Women over 65 years of age have a higher risk of the disease than women aged 40 years 6 and the disease is extremely rare in women under 30 years of age 7 . In addition, hereditary breast cancer is responsible for 5% to 10% of all breast cancers and is caused by mutations in the BRCA1 or BRCA2 genes 8 . Furthermore, obesity, high-fat diet, alcohol and lack of physical activity are associated with breast cancer.…”

Section: Risk Factorsmentioning

confidence: 99%

Greek Women’s Knowledge and Perceptions Related to Breast Cancer Prevention

Bakalis Nick,

Koukoumi Eirini,

Rekoumi Areti

et al. 2022

IJONE

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Background: Breast cancer is the most common form of cancer and the leading cause of cancer death in women worldwide. The aim of this survey was to investigate Greece women's knowledge and perceptions related to breast cancer prevention. Methods:A reliable questionnaire from the literature was used which then was translated using the forward and backward translation method. It contained 37 questions and the sample consisted of 650 women. The statistical analysis was completed using SPSS 25. The study found that the majority of the sample had knowledge regarding breast cancer prevention, they knew the importance of breast self-examination and annual clinical breast examination needed to be conducted as well as the age to undergo their first mammogram. Age, occupation, annual family income, education level, and marital status significantly influenced women's knowledge and perceptions related to breast cancer prevention. Conclusions:The state, the media and schools contribute to raising awareness and the involvement of health professionals is essential to better inform and educate adolescent girls and women on this issue.

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“…In the United States, approximately 5 to 10% of BC cases are believed to have a hereditary risk [ 5 ]. However, these percentages are higher in a subset of women with early-onset BC, familial history, or triple-negative BC (TNBC), i.e., estrogen and progesterone receptors (ER and PR, respectively) and human epidermal growth factor receptor 2 (HER2) negative, based on immunohistochemistry (IHC) [ 6 , 7 ]. Moreover, the cumulative risk of developing BC by age 50 in sisters and mothers of patients under 40 years old with BC was 6 and 3 times higher than the average population, respectively [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity

Zhunussova,

Omarbayeva,

Kaidarova

et al. 2023

Oncotarget

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Breast cancer (BC) is the most common type of cancer among women in Kazakhstan. To date, little data are available on the spectrum of genetic variation in Kazakh women with BC. We aimed to identify population-specific genetic markers associated with the risk of developing early-onset BC and test their association with clinical and prognostic factors. The study included 224 Kazakh women diagnosed with BC (≤40 age). Entire coding regions (>1700 exons) and the flanking noncoding regions of 94 cancer-associated genes were sequenced from blood DNA using MiSeq platform. We identified 38 unique pathogenic variants (PVs) in 13 different cancer-predisposing genes among 57 patients (25.4%), of which 6 variants were novel. In total, 12 of the 38 distinct PVs were detected recurrently, including BRCA1 c.5266dup, c.5278-2del, and c.2T>C, and BRCA2 c.9409dup and c.9253del that may be founder in this population. BRCA1 carriers were significantly more likely to develop triple-negative BC (OR = 6.61, 95% CI 2.44–17.91, p = 0.0002) and have family history of BC (OR = 3.17, 95% CI 1.14–8.76, p = 0.03) compared to non-carriers. This study allowed the identification of PVs specific to early-onset BC, which may be used as a foundation to develop regional expertise and diagnostic tools for early detection of BC in young Kazakh women.

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The BRCA1 and BRCA2 Genes in Early-Onset Breast Cancer Patients

Cited by 10 publications

References 22 publications

Alternative methylation of intron motifs is associated with cancer-related gene expression in both canine mammary tumor and human breast cancer

Alternative methylation of intron motifs is associated with cancer-related gene expression in both canine mammary tumor and human breast cancer

Greek Women’s Knowledge and Perceptions Related to Breast Cancer Prevention

Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity

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