AI Article Synopsis

  • Breast cancer is the most prevalent cancer in Iran, with increasing incidence rates observed in recent years.
  • Early detection through molecular methods can help reduce the severe impacts of the disease.
  • A study analyzed 254 women with early-onset breast cancer, identifying 46 genetic alterations linked to the BRCA gene, which can aid in better patient management and understanding of familial risks.

Article Abstract

Breast cancer is the most common cancer in Iran. In the recent years an upward trend has been observed in the Iranian population. Early detection by molecular approaches may reduce breast cancer morbidity and mortality. We provided consultation to 3,782 women diagnosed with early onset breast cancer during the past 15 years (1999-2014). To establish a data set for BRCA gene alterations of the Iranian families at risk, two hundred and fifty four women who met our criteria were analyzed. A total number of 46 alterations including 18 variants with unknown clinical significance (39.1%), 18 missense mutations (39.1%), 7 Indels (15.2%) and 3 large rearrangement sequences (6%) were identified. Further scanning of affected families revealed that 49% of healthy relatives harbor identical causative mutations. This is the first report of comprehensive BRCA analysis in Iranian women with early onset breast cancer. Our findings provide valuable molecular data to support physicians as well as patients for the best decision making on disease management.

Download full-text PDF

Source
http://dx.doi.org/10.7314/apjcp.2016.17.s3.149DOI Listing

Publication Analysis

Top Keywords

breast cancer
20
early onset
12
onset breast
12
iranian women
8
women early
8
cancer years
8
cancer
6
breast
5
mutation spectra
4
spectra brca
4

Similar Publications

Breast cancer remains the leading cause of mortality among women with cancer. This article delves into the intricate relationship between breast cancer and cancer stem cells (CSCs), emphasizing advanced methods for their identification and isolation. The key isolation techniques, such as the mammosphere formation assay, surface marker identification, Side Population assay, and Aldehyde Dehydrogenase assay, are critically examined.

View Article and Find Full Text PDF

Epidermal growth factor receptor (EGFR) plays an important role in the regulation of cell proliferation and migration [1]. It forms a homodimer or heterodimer with other ErbB receptor family members to activate downstream signaling. Emerging evidence indicates that the EGFR activity and downstream signaling are regulated by other proteins except its family members during tumorigenesis.

View Article and Find Full Text PDF

Purpose: Perfusion modeling presents significant opportunities for imaging biomarker development in breast cancer but has historically been held back by the need for data beyond the clinical standard of care (SoC) and uncertainty in the interpretability of results. We aimed to design a perfusion model applicable to breast cancer SoC dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) series with results stable to low temporal resolution imaging, comparable with published results using full-resolution DCE-MRI, and correlative with orthogonal imaging modalities indicative of biophysical markers.

Methods: Subsampled high-temporal-resolution DCE-MRI series were run through our perfusion model and resulting fits were compared for consistency.

View Article and Find Full Text PDF

Background: We aimed to investigate the clinical and molecular characteristics of different degrees of human epidermal growth factor receptor 2 (HER2) protein expression in HER2-negative breast cancer and the related factors affecting the efficacy of neoadjuvant chemotherapy in HER2-low breast cancer patients.

Methods: The study endpoint was pathological complete remission (PCR). Blood specimens and fresh cancer tissue samples were collected before neoadjuvant chemotherapy for whole-exon sequencing (WES) and RNA sequencing (RNA-seq), and patients were divided into a human epidermal growth factor receptor 2 (HER2)-low group and a HER2-0 group according to their HER2 expression status via bioinformatics analysis.

View Article and Find Full Text PDF

This study aimed to evaluate the efficacy of pyrotinib, an orally administered small molecule tyrosine kinase inhibitor, combined with neoadjuvant chemotherapy in treating patients with human epidermal growth factor receptor 2 (HER2)-positive breast cancer. Pyrotinib works by inhibiting the HER2 signaling pathway, thereby preventing tumor cell growth. This single-arm clinical trial aimed to assess the total pathological complete response (tpCR; ypT0/is and ypN0) rate as the primary endpoint.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!