BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan

Abu-Helalah, Munir; Azab, Belal; Mubaidin, Rasmi; Ali, Dema; Jafar, Hanan; Alshraideh, Hussam; Drou, Nizar; Awidi, Abdalla

doi:10.1038/s41598-020-74250-2

Cited by 23 publications

(15 citation statements)

References 36 publications

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“…The local cancer registry reports reveal that 20.5% of all BC cases in Jordan occur in women younger than 40 16 , in contrast with the reported 10.2% of BC cases occurring before the age of 45 in the United States 10 . These observations, along with the relatively high rate of BRCA1- and BRCA2- associated BC cases reported among Jordanian patients, can be considered as additional key factors that contribute to a genetically-enriched landscape for BC disease patterns, with potential for distinctive age-defined outcomes 17 , 18 . This study managed to identify the ways by which the Jordanian BC population both adhered to, or deviated from, the global trends of age-related differences in breast cancer presentation and treatment outcomes.…”

Section: Discussionmentioning

confidence: 94%

Differences in clinicopathological characteristics, treatment, and survival outcomes between older and younger breast cancer patients

Abdel‐Razeq

Iweir

Abdel-Razeq

et al. 2021

Sci Rep

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In developing countries, breast cancer is diagnosed at a much younger age. In this study we investigate the dichotomies between older and young breast cancer patients in our region. The study involved two cohorts; older patients (≥ 65 years, n = 553) and younger ones (≤ 40 years, n = 417). Statistical models were used to investigate the associations between age groups, clinical characteristics and treatment outcomes. Compared to younger patients, older patients were more likely to present with advanced-stage disease (20.6% vs. 15.1%, p = .028). However, among those with non-metastatic disease, younger patients tended to have more aggressive pathological features, including positive axillary lymph nodes (73.2% vs. 55.6%, p < .001), T-3/4 (28.2% vs. 13.8%, p < .001) and HER2-positive disease (29.3% vs. 16.3%, p < .001). The 5-year overall survival (OS) rate was significantly better for the younger (72.1%) compared to the older (67.6%), p = .035. However, no significant difference was observed in disease-free survival (DFS) between the two groups.In conclusion, younger patients with breast cancer present with worse clinical and pathological features, albeit a better OS rate. The difference in DFS between the two groups was not insignificant, suggesting that older women were more likely to die from non-cancer related causes.

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Section: Discussionmentioning

confidence: 94%

Differences in clinicopathological characteristics, treatment, and survival outcomes between older and younger breast cancer patients

Abdel‐Razeq

Iweir

Abdel-Razeq

et al. 2021

Sci Rep

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“…Another common mutation BRCA1 c.3756_3759delGTCT has been detected in some populations, such as Thai [55], Polish [56], Belarusian [57], Italian [58], French-Canadian [59], and Czech populations [60]. BRCA1 c.4065_4068del has been detected in some populations [61][62][63]. Another study showed that c.4065_4068del is one of the three most common BRCA1 variants in Chinese ovarian cancer patients [47].…”

Section: Discussionmentioning

confidence: 99%

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients

Zhang

et al. 2022

BMC Cancer

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Objective To investigate the prevalence and spectrum of BRCA1 and BRCA2 mutations in Chinese Hakka patients with breast and ovarian cancer. Methods A total of 1,664 breast or ovarian cancer patients were enrolled for genetic testing at our hospital. Germline mutations of the BRCA gene were analysed by next-generation sequencing, including the coding regions and exon intron boundary regions. Results The 1,664 patients included 1,415 (85.04%) breast cancer patients and 245 (14.72%) ovarian cancer patients, while four (0.24%) patients had both the breast and ovarian cancers. A total of 151 variants, including 71 BRCA1 variants and 80 BRCA2 variants, were detected in the 234 (14.06%) patients. The 151 variants included 58 pathogenic variants, 8 likely pathogenic variants, and 85 variants of unknown significance (VUS). A total of 56.25% (18/32) and 65.38% (17/26) of pathogenic variants (likely pathogenic variants are not included) were distributed in exon 14 of BRCA1 and exon 11 of BRCA2, respectively. The most common pathogenic variants among this Hakka population are c.2635G > T (p.Glu879*) (n = 7) in the BRCA1 gene and c.5164_5165del (p.Ser1722Tyrfs*4) (n = 7) in the BRCA2 gene among the Hakka population. A hotspot mutation in the Chinese population, the BRCA1 c.5470_5477del variant was not found in this Hakka population. The prevalence and spectrum of variants in the BRCA genes in the Hakka patients are different from that in other ethnic groups. Conclusions The most common pathogenic variant in this population is c.2635G > T in the BRCA1 gene, and c.5164_5165delAG in the BRCA2 gene in this population. The prevalence and spectrum of variants in the BRCA1 and BRCA2 genes in the Hakka patients from southern China are different from those in other ethnic groups.

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“… 4 In fact, only 5–10% of breast cancer cases are thought to have a genetic background, with BRCA1/2 germline mutations contributing to approximately 50% of these hereditary cases. 5 , 6 …”

Section: Introductionmentioning

confidence: 99%

“…4 In fact, only 5-10% of breast cancer cases are thought to have a genetic background, with BRCA1/2 germline mutations contributing to approximately 50% of these hereditary cases. 5,6 Breast cancer is a heterogenous disease owing to the existence of molecular and phenotypic variations within a patient's tumor (intra-tumoral heterogeneity) and between different patients' tumors (inter-tumoral heterogeneity). 7 Based on immunohistochemistry and gene expression profiling, breast cancer can be classified into different biological subtypes.…”

Section: Introductionmentioning

confidence: 99%

Mangifera indica (Mango): A Promising Medicinal Plant for Breast Cancer Therapy and Understanding Its Potential Mechanisms of Action

Yap¹,

Sekar²,

Seow³

et al. 2021

BCTT

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Globally, breast cancer is the most common cancer type and is one of the most significant causes of deaths in women. To date, multiple clinical interventions have been applied, including surgical resection, radiotherapy, endocrine therapy, targeted therapy and chemotherapy. However, 1) the lack of therapeutic options for metastatic breast cancer, 2) resistance to drug therapy and 3) the lack of more selective therapy for triple-negative breast cancer are some of the major challenges in tackling breast cancer. Given the safe nature of natural products, numerous studies have focused on their anti-cancer potentials. Mangifera indica , commonly known as mango, represents one of the most extensively investigated natural sources. In this review, we provide a comprehensive overview of M. indica extracts (bark, kernel, leaves, peel and pulp) and phytochemicals (mangiferin, norathyriol, gallotannins, gallic acid, pyrogallol, methyl gallate and quercetin) reported for in vitro and in vivo anti-breast cancer activities and their underlying mechanisms based on relevant literature from several scientific databases, including PubMed, Scopus and Google Scholar till date. Overall, the in vitro findings suggest that M. indica extracts and/or phytochemicals inhibit breast cancer cell growth, proliferation, migration and invasion as well as trigger apoptosis and cell cycle arrest. In vivo results demonstrated that there was a reduction in breast tumor xenograft growth. Several potential mechanisms underlying the anti-breast cancer activities have been reported, which include modulation of oxidative status, receptors, signalling pathways, miRNA expression, enzymes and cell cycle regulators. To further explore this medicinal plant against breast cancer, future research directions are addressed. The outcomes of the review revealed that M. indica extracts and their phytochemicals may have potential benefits in the management of breast cancer in women. However, to validate its utility in the creation of innovative and potent therapeutic agents to treat breast cancer, more dedicated research, especially clinical studies are needed to explore the anti-breast cancer potentials of M. indica extracts and their phytochemicals.

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BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan

Cited by 23 publications

References 36 publications

Differences in clinicopathological characteristics, treatment, and survival outcomes between older and younger breast cancer patients

Differences in clinicopathological characteristics, treatment, and survival outcomes between older and younger breast cancer patients

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients

Mangifera indica (Mango): A Promising Medicinal Plant for Breast Cancer Therapy and Understanding Its Potential Mechanisms of Action

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