Impact of BRCA Mutation Status on Survival of Women With Triple-negative Breast Cancer

Yadav, Siddhartha; Ladkany, Rand; Yadav, Dhiraj; Alhalabi, Omar; Khaddam, Sinan; Isaac, Daniel; Cardenas, Paola Yumpo; Zakalik, Dana

doi:10.1016/j.clbc.2017.12.014

Cited by 22 publications

(20 citation statements)

References 38 publications

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“…The association between BRCA mutations and survivability is controversial as BC prognosis in BRCA mutation carriers remains poorly understood. In line with current study, Yadav et al, (2018) found no statistical significant difference in overall survival (OS) between the BRCA mutation carriers and non-carriers. Conversly, (van den Broek et al, 2015) were found to be heterogenous and indecisive.…”

Section: Discussionsupporting

confidence: 87%

Analysis of Heterozygous BRCA1 5382ins Founder Mutation in a Cohort of Egyptian Breast Cancer Female Patients Using Pyrosequencing Technique

Mogahed

Hamed

Moursy

et al. 2020

Asian Pac J Cancer Prev

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Breast cancer (BC) is the most frequently occurring cancer among women, representing a quarter of all diagnosed cancers (Bray et al., 2018). It is also the first cause of cancer-related deaths among them(DeSantis et al., 2015). In Egypt, according to the latest National Cancer Registry Program (NCRP), BC is the most common cancer among women representing 32.04% of total cancers (Ibrahim et al., 2014). BRCA1 and BRCA2 (breast cancer predisposition gene 1/2)are the strongest susceptibility genes for BCaccounting for up to half of the heritable mutations in BC and inherited in an autosomal dominant pattern with incomplete penetrance (Tung et al., 2015). Defective DNA double-strand repair is a characteristic of germline mutations in BRCA1 and BRCA2 genes in all cells expressing them (Mehrgou and Akouchekian, 2016).They are also classified as pathogenic variants or

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Section: Discussionsupporting

confidence: 87%

Analysis of Heterozygous BRCA1 5382ins Founder Mutation in a Cohort of Egyptian Breast Cancer Female Patients Using Pyrosequencing Technique

Mogahed

Hamed

Moursy

et al. 2020

Asian Pac J Cancer Prev

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“…5-year OS for BRCA1/2-positive and BRCA1/2-negative breast cancer patients was 83% and 90% and 5-year RFS was 83% and 80%, respectively. e differences were not statistically significant [34].…”

Section: Triple-negative Breast Cancermentioning

confidence: 85%

“…In the study performed by Yadav et al [34], 266 TNBC patients had undergone BRCA1/2 mutation tests. In 27% of them, BRCA1/2 mutations were detected.…”

Section: Triple-negative Breast Cancermentioning

confidence: 99%

Effects of BRCA Germline Mutations on Triple-Negative Breast Cancer Prognosis

Pogoda

Niwińska

Sarnowska

et al. 2020

Journal of Oncology

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Germline BRCA1 and BRCA2 mutations confer an increased lifetime risk for breast cancer and ovarian cancer. Several studies have investigated prognosis among BRCA1/2 mutation carriers and noncarriers, but the prognostic impact on outcomes of breast cancer patients has not been determined. The aim of this study was to determine the prognosis of TNBC patients with and without BRCA1/2 germline mutation. Among 502 patients diagnosed with TNBC between 2005 and 2008, 124 patients with a strong family history of breast cancer or ovarian cancer as well as TNBC patients diagnosed under 45 years were referred to the Genetic Counseling Unit for genetic counselling and genetic tests. In 30 (24%) of them, the BRCA1/2 mutation was detected (the most common 5382insC in 18 (60%) patients). The median follow-up of the entire group was 60 months. BRCA1/2 mutation carriers were statistically significantly younger at TNBC diagnosis compared with nonmutation patients (41 vs 47 years, respectively). Patients with the BRCA1/2 mutation had smaller tumors (stage I: 47% vs 24.5% in noncarriers), but there was no significant difference in the regional nodal status (58.5–63% with cN0). Contralateral breast cancer developed in 26.5% of BRCA1/2 mutation carriers and in 14% of noncarriers. Other primary cancers were also slightly more common in BRCA1/2 mutation carriers (16.5% vs 9.5%). The performed analysis did not show any significant differences between the groups in recurrence-free survival (p=0.312). There was no significant difference between patients with or without BRCA1/2 mutation as regards overall survival (p=0.649) and the risk of TNBC death (p=0.333). The survival from detection of metastases was similar in two groups (p=0.865). Our study demonstrated that the BRCA1 mutation does not affect TNBC patients’ outcomes.

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“…Enduring efforts made by researchers or organizations such as CIMBA demonstrate the ubiquitous perception of higher ratio of BRCA mutations in younger patients with more aggressive subgroups of breast cancer. 223 , 225 , 226 , 227 Nonetheless, the majority of these studies imply a comparable outcome among patients regardless of BRCA status, limiting the application of BRCA mutation status in prognosis prediction.…”

Section: Cancer Gene Mutations In Breast Cancermentioning

confidence: 99%

Breast cancer development and progression: Risk factors, cancer stem cells, signaling pathways, genomics, and molecular pathogenesis

et al. 2018

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As the most commonly occurring cancer in women worldwide, breast cancer poses a formidable public health challenge on a global scale. Breast cancer consists of a group of biologically and molecularly heterogeneous diseases originated from the breast. While the risk factors associated with this cancer varies with respect to other cancers, genetic predisposition, most notably mutations in BRCA1 or BRCA2 gene, is an important causative factor for this malignancy. Breast cancers can begin in different areas of the breast, such as the ducts, the lobules, or the tissue in between. Within the large group of diverse breast carcinomas, there are various denoted types of breast cancer based on their invasiveness relative to the primary tumor sites. It is important to distinguish between the various subtypes because they have different prognoses and treatment implications. As there are remarkable parallels between normal development and breast cancer progression at the molecular level, it has been postulated that breast cancer may be derived from mammary cancer stem cells. Normal breast development and mammary stem cells are regulated by several signaling pathways, such as estrogen receptors (ERs), HER2, and Wnt/β-catenin signaling pathways, which control stem cell proliferation, cell death, cell differentiation, and cell motility. Furthermore, emerging evidence indicates that epigenetic regulations and noncoding RNAs may play important roles in breast cancer development and may contribute to the heterogeneity and metastatic aspects of breast cancer, especially for triple-negative breast cancer. This review provides a comprehensive survey of the molecular, cellular and genetic aspects of breast cancer.

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Impact of BRCA Mutation Status on Survival of Women With Triple-negative Breast Cancer

Cited by 22 publications

References 38 publications

Analysis of Heterozygous BRCA1 5382ins Founder Mutation in a Cohort of Egyptian Breast Cancer Female Patients Using Pyrosequencing Technique

Analysis of Heterozygous BRCA1 5382ins Founder Mutation in a Cohort of Egyptian Breast Cancer Female Patients Using Pyrosequencing Technique

Effects of BRCA Germline Mutations on Triple-Negative Breast Cancer Prognosis

Breast cancer development and progression: Risk factors, cancer stem cells, signaling pathways, genomics, and molecular pathogenesis

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