Publications by authors named "Saloustros E"
Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed.
Methods: We explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer diagnosis, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 223,316 females without breast cancer diagnosis from the UK Biobank.
Article Synopsis
- Clinical genetic testing helps find cancer risks by identifying gene changes, but some of these changes are confusing because we don't know what they mean (called VUS).
- Researchers studied a huge number of breast cancer patients and healthy people to understand these confusing gene changes better.
- They found that their method of analyzing data closely matches what other experts say about which gene changes are harmless or harmful, giving more information about 785 unclear changes.
Background: Lesbian, gay, bisexual, transgender, and queer (LGBTQ) individuals with cancer have specific and unique health issues and needs. Reports persist of inequalities in the care provided for these patients, making it important to assess the attitudes and knowledge of LGBTQ needs among those who provide care.
Materials And Methods: The European Society for Medical Oncology (ESMO) and the European Society for Paediatric Oncology (SIOP Europe) Adolescents and Young Adults Working Group designed this survey comprising 67 questions covering demographics, knowledge, and education of LGBTQ health needs, and attitudes regarding LGBTQ patients with cancer.
Article Synopsis
- * Analysis of data from over 55,000 breast cancer patients showed that co-observation of variants in BRCA1, BRCA2, and PALB2 with other breast cancer genes occurred less frequently than expected, suggesting a potential correlation with pathogenicity.
- * The findings indicate that identifying a variant of uncertain significance alongside a known pathogenic variant supports evidence against the variant's pathogenicity, which could improve variant classification in clinical settings and for other genetic conditions.
Article Synopsis
- * A study involving 52 stage III/IV NSCLC patients showed that 44% had detectable pre-existing T cells specific to tumors, and those patients had better median overall survival rates compared to those without these T cells.
- * The research highlighted that patients with pre-existing T cells and low levels of certain immunosuppressive cells had a significant survival advantage, suggesting that evaluating these immune cell characteristics could help identify which patients are likely to benefit most from immunotherapy.
Article Synopsis
- Scientists looked at the timing of when girls start their periods (called menarche) and how it can affect their health later in life.
- They studied about 800,000 women and found over a thousand genetic signals that influence when menstruation starts.
- Some women have a much higher chance of starting their periods too early or too late based on their genetic makeup, suggesting that genes play a big role in this process!
Breast cancer is the most prevalent female cancer worldwide with known correlations between the race and tumor characteristics of the patients and prognosis. International and US-based studies, however, have reported a disproportionate representation of Black and Hispanic patients in clinical trials. This is the first study assessing race and ethnicity reporting trends and inclusion in European breast cancer trials.
View Article and Find Full Text PDFThe 313-variant polygenic risk score (PRS) provides a promising tool for breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed. Here, we explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 225,105 female participants from the UK Biobank.
View Article and Find Full Text PDFThe current study assessed the views and attitudes of health professionals (HPs) regarding factors associated with energy balance-related health behaviours and weight management in breast cancer survivors (BCS) with overweight and obesity. Semi-structured online interviews were conducted with 21 HPs (oncologists, dietitians- nutritionists, physical education instructors, mental health professionals, and nurses) from Attica and Thessaly. Thematic analysis was used to analyse and present the data.
View Article and Find Full Text PDFThe present study aimed to identify the factors that prohibit or enable breast cancer survivors from adopting a healthy lifestyle, as well as to record patients' suggestions towards developing a weight-loss lifestyle intervention. Twenty-three breast cancer survivors participated in four online, semi-structured focus groups in Greece. All discussions were video-recorded and transcribed verbatim.
View Article and Find Full Text PDFThe management of breast cancer during pregnancy (PrBC) is a relatively rare indication and an area where no or little evidence is available since randomized controlled trials cannot be conducted. In general, advances related to breast cancer (BC) treatment outside pregnancy cannot always be translated to PrBC, because both the interests of the mother and of the unborn should be considered. Evidence remains limited and/or conflicting in some specific areas where the optimal approach remains controversial.
View Article and Find Full Text PDFPubertal timing varies considerably and has been associated with a range of health outcomes in later life. To elucidate the underlying biological mechanisms, we performed multi-ancestry genetic analyses in ~800,000 women, identifying 1,080 independent signals associated with age at menarche. Collectively these loci explained 11% of the trait variance in an independent sample, with women at the top and bottom 1% of polygenic risk exhibiting a ~11 and ~14-fold higher risk of delayed and precocious pubertal development, respectively.
View Article and Find Full Text PDFBackground: It is well documented that traditional health care models do not meet the specific needs of Adolescents and Young Adults (AYA) cancer patients.
Methods: We explore a map of the development of age-specific AYA cancer care across Europe, from the perspective of healthcare professionals with an interest in AYA care, in order to understand the specific challenges and map progress over time. An on-line survey was developed by international professional cancer organisations.
Article Synopsis
- Polygenic risk scores (PRSs), derived from genome-wide association studies (GWASs), can enhance breast cancer risk evaluation but are primarily based on European populations.
- This study analyzed the effectiveness of European-based PRS models in identifying breast cancer risk among Ashkenazi Jewish women in Israel using data from two cohorts.
- Results indicated that these PRS models successfully identified Ashkenazi Jewish women at high risk for breast cancer, suggesting they could improve risk assessment in this group.
Article Synopsis
- * The study revealed significant variation in the prevalence of four common PTVs across different regions in Europe, with p.Gln1701* being most common in Northern Europe and p.Gly1906Alafs*12 most common in Southern Europe.
- * Findings suggest that the distribution of rare PTVs is more heterogeneous in Southwestern and Central Europe compared to Northeastern Europe, which will aid in crafting targeted genetic testing for breast cancer in specific European populations.
Article Synopsis
- Breast cancer patients with the CHEK2 c.1100delC variant have a heightened risk of developing a second breast cancer (contralateral breast cancer) and generally experience worse survival outcomes compared to those without the variant.
- A study involving over 82,000 women aimed to evaluate how the CHEK2 variant, radiotherapy, and systemic treatments affect the risk of contralateral breast cancer and breast cancer-specific survival.
- Findings indicated that while systemic therapy (especially the combination of chemotherapy and endocrine therapy) lowers the risk of contralateral breast cancer, CHEK2 c.1100delC carriers still faced poorer survival rates, suggesting other factors at play beyond the risk of developing a second cancer.*
Article Synopsis
- A study evaluated the PREDICT v 2.2 tool for predicting the prognosis of breast cancer in patients with BRCA1 and BRCA2 gene variants, using data from over 5,400 carriers across two major cancer research consortia.
- The PREDICT model showed reasonable effectiveness in distinguishing high-mortality groups for estrogen receptor (ER)-negative breast cancer in BRCA1 carriers, while for BRCA2 carriers, its accuracy was lower and fluctuated based on tumor characteristics.
- The findings suggest that while PREDICT can aid in management of breast cancer patients, adjustments for BRCA2 status and tumor features are necessary to improve prognosis estimates, particularly for ER-positive cases.
Purpose: Updated evidence for the treatment of obesity in cancer survivors includes behavioural lifestyle interventions underpinning at least one theoretical framework. The aim of this systematic review was to assess the effectiveness of theory-based lifestyle interventions for the treatment of overweight/obesity in breast cancer survivors and to report effective behavioural change techniques (BCTs) and components used in these interventions.
Methods: Four databases were searched for RCTs published between database inception and July 2022.
Article Synopsis
- - The study investigated the links between genetic variants in breast cancer susceptibility genes (besides BRCA1, BRCA2, and CHEK2) and risks of developing contralateral breast cancer (CBC) and breast cancer-specific survival (BCSS) in 34,401 women of European ancestry who had been diagnosed with breast cancer.
- - Significant findings revealed that protein-truncating variants (PTVs) and certain missense variants (MSVs) in genes like BRCA1, BRCA2, TP53, CHEK2, and PALB2 were associated with higher CBC risk and negative impacts on BCSS, indicating that these genetic factors play a crucial role in cancer outcomes.
- - The results showed minimal
Breast cancer (BC) patients with a germline c.1100delC variant have an increased risk of contralateral BC (CBC) and worse BC-specific survival (BCSS) compared to non-carriers. We aimed to assess the associations of c.
View Article and Find Full Text PDFArticle Synopsis
- A European registry was established for patients with advanced EGFR exon 20-mutant non-small cell lung cancer (NSCLC) diagnosed between January 2019 and December 2021, specifically excluding those enrolled in clinical trials.* -
- The final analysis included data from 175 patients across nine countries, revealing a median age of 64 years, predominantly affecting women (56.3%) and mostly comprising adenocarcinoma cases (95.4%) with frequent bone (47.4%) and brain (32.0%) metastases.* -
- Treatment patterns varied significantly: chemotherapy and chemotherapy-immunotherapy combinations were used in 33.8% and 18.2% of cases respectively, with disease control rates of
Background: Cancer epidemiology is unique in adolescents and young adults (AYAs; aged 15-39 years). The European Society for Medical Oncology/European Society for Paediatric Oncology (ESMO/SIOPE) AYA Working Group aims to describe the burden of cancers in AYAs in Europe and across European Union (EU) countries.
Patients And Methods: We used data available on the Global Cancer Observatory.
Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry.
View Article and Find Full Text PDFBackground: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.
Methods: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls.