Genetic Predisposition to Male Breast Cancer DOI
Markéta Janatová, Marianna Borecká, Petra Zemánková

и другие.

Folia Biologica, Год журнала: 2024, Номер 70(5-6), С. 274 - 284

Опубликована: Янв. 1, 2024

Male breast cancer (mBC) is a rare diagnosis that constitutes less than 1 % of all cases globally. Genetic factors play an important role in the mBC risk. Germline pathogenic variants (PVs) predisposition genes could be identified about 15 cases. We performed germline genetic testing 248 Czech patients and 3,626 non-cancer male controls using next-generation sequencing by CZECANCA panel (226 genes). 46/248 (18.5 %) carriers PVs established genes, primarily BRCA2 (N = 34), frequently BRCA1 7) PALB2 5). The presence PV these significantly increased risk (OR 44.04; 5.82; 8.26, respectively). Additionally, we 16 candidate but only CHEK2 were associated with 4.98). significance 26 alterations 23/192 additionally analysed remained uncertain. younger (55.8 52.6 years, respectively) non-carriers (64.8 years), had more grade G3 tumours positive family history. Our study underscores critical while also highlighting potential contributions additional warrant further investigation. Moreover, it supports justifies universal for to generally improve early detection tailored treatment.

Язык: Английский

Observational Study of Men and Women with Breast Cancer in Terms of Overall Survival DOI Open Access

Vlad Bogdan Varzaru,

Diana-Maria Anastasiu-Popov,

Anca-Elena Eftenoiu

и другие.

Cancers, Год журнала: 2024, Номер 16(17), С. 3049 - 3049

Опубликована: Сен. 1, 2024

Breast cancer is one of the most common cancers and leading cause death in women. Less than 1% breast cases are male cancers. Although there has been significant progress made management cancer, due to its rarity among men, question whether men women with have same treatment response survival rate still needs be answered. The primary goal this study compare outcomes between female patients.

Язык: Английский

Процитировано

5
Emerging Mechanisms and Biomarkers Associated with T-Cells and B-Cells in Autoimmune Disorders DOI
Azhagu Madhavan Sivalingam

Clinical Reviews in Allergy & Immunology, Год журнала: 2025, Номер 68(1)

Опубликована: Фев. 11, 2025

Язык: Английский

Процитировано

0
Generating a Database by Calculating the Pathogenic Variants and Allele Frequencies Detected in Hereditary Cancers Using Genomic Data: A Nation Study DOI Creative Commons
M. Ajmal Ali, Polat Olgun, Ömer Diker

и другие.

Global Medical Genetics, Год журнала: 2025, Номер unknown, С. 100052 - 100052

Опубликована: Фев. 1, 2025

Язык: Английский

Процитировано

0
Cancer as an Individual Risk Factor for Heart Failure: A Review of Literature DOI Open Access

Marlon E Rivera Boadla,

Nava R Sharma, Muhammad Haris Khan

и другие.

Cureus, Год журнала: 2024, Номер unknown

Опубликована: Май 19, 2024

The intricate relationship between cancer and cardiovascular diseases (CVD), notably heart failure (HF), is gaining attention in the medical field. This literature review explores interplay CVD, particularly HF, emphasizing their significant impact on global mortality comorbidity. While preventive measures have contributed to reducing incidence, challenges persist predicting managing cancer-related complications. article delves into various risk factors associated with both including lifestyle factors, genetic predispositions, immune system dysregulation. It highlights emerging evidence suggesting a direct interaction studies indicating an elevated of from patients HF vice versa. Pathological mechanisms such as inflammation, oxidative stress, tissue hypoxia are implicated cancer-induced cardiac dysfunction, underscoring need for comprehensive clinical investigations ethical considerations patient care. also discusses potential role biomarkers assessment, early detection cardiotoxicity, understanding common pathophysiological links paving way multifaceted therapeutic approaches.

Язык: Английский

Процитировано

2
More evidence for widespread antagonistic pleiotropy in polymorphic disease alleles DOI Creative Commons

Cynthia Lockwood,

Ashley S. Vo,

Hanna Bellafard

и другие.

Frontiers in Genetics, Год журнала: 2024, Номер 15

Опубликована: Июнь 17, 2024

Introduction Many loci segregate alleles classified as “genetic diseases” due to their deleterious effects on health. However, some disease have been reported show beneficial under certain conditions or in populations. The of these antagonistically pleiotropic may explain continued prevalence, but the degree which antagonistic pleiotropy is common rare unresolved. We surveyed medical literature identify examples help determine whether appears be common. Results identified ten with polymorphisms for presence well supported by detailed genetic epidemiological information humans. One additional locus was supporting evidence comes from animal studies. These complement over 20 others other reviews. Discussion existence more than 30 human suggests that this phenomenon widespread. This poses important implications both our understanding evolutionary genetics and approaches clinical treatment prevention, especially therapies based modification.

Язык: Английский

Процитировано

2
BRCA1, BRCA2 and PALB2 mRNA Expression as Prognostic Markers in Patients with Early Breast Cancer DOI Creative Commons
Ina Shehaj, Slavomir Krajnak, Katrin Almstedt

и другие.

Biomedicines, Год журнала: 2024, Номер 12(6), С. 1361 - 1361

Опубликована: Июнь 19, 2024

Breast cancer (BC) poses a challenge in establishing new treatment strategies and identifying prognostic predictive markers due to the extensive genetic heterogeneity of BC. Very few studies have investigated impact mRNA expression these genes on survival BC patients. Methods: We examined breast gene type 1 (BRCA1), 2 (BRCA2), partner localizer BRCA2 (PALB2) metastasis-free (MFS) patients with early using microarray analysis. Results: The study was performed cohort 461 median age 62 years at initial diagnosis. follow-up time 147 months. could show that lower BRCA1 is significantly associated longer MFS (p < 0.050). On contrary, PALB2 correlated shorter = 0.049). Subgroup analysis identified influence for among luminal-B-like subset luminal-A-like Conclusions: According our observations, BRCA1, BRCA2, might become valuable biomarkers disease progression.

Язык: Английский

Процитировано

1
BRCA-associated hereditary male cancers: can gender affect the prevalence and spectrum of germline pathogenic variants? DOI Creative Commons
Daniele Fanale,

Lidia Rita Corsini,

Chiara Brando

и другие.

Frontiers in Oncology, Год журнала: 2024, Номер 14

Опубликована: Июнь 21, 2024

Although hereditary male neoplasms are quite rare, individuals harbouring germline

Язык: Английский

Процитировано

1
Understanding genetic variations associated with familial breast cancer DOI Creative Commons

Manjusha Pal,

Doutrina Das,

Manoj Pandey

и другие.

World Journal of Surgical Oncology, Год журнала: 2024, Номер 22(1)

Опубликована: Окт. 10, 2024

Abstract Background Breast cancer is the most frequent among women. Genetics are main risk factor for breast cancer. Statistics show that 15–25% of cancers inherited those with cancer-prone relatives. BRCA1 , BRCA2 TP53 CDH1 PTEN and STK11 genes familial cancer, which occurs 80% time. In rare situations, moderate-penetrance gene mutations such CHEK2 BRIP1 ATM PALB2 contribute 2–3%. Methods A search PubMed database was carried out spanning from 2005 to July 2024, yielding a total 768 articles delve into realm concerning genetic syndromes. After exclusion 150 were included in final review. Results We report on set 20 -associated high, moderate, low penetrance levels. Additionally, 10 disorders found be linked Conclusion Familial has been several diseases mutations, according studies. Screening recommended by National Comprehensive Cancer Network recommendations. Evaluation candidate variations loci may improve individual assessment. Only high- moderate-risk have clinical guidelines, whereas low-risk variants require additional investigation. With increasing use NGS technology, more linkage being discovered.

Язык: Английский

Процитировано

1
Bioinformatics approaches for studying molecular sex differences in complex diseases DOI Creative Commons
Rebecca Ting Jiin Loo, Mohamed Soudy, Francesco Nasta

и другие.

Briefings in Bioinformatics, Год журнала: 2024, Номер 25(6)

Опубликована: Сен. 23, 2024

Many complex diseases exhibit pronounced sex differences that can affect both the initial risk of developing disease, as well clinical disease symptoms, molecular manifestations, progression, and comorbidities. Despite this, computational studies data for often treat a confounding variable, aiming to filter out sex-specific effects rather than attempting interpret them. A more systematic, in-depth exploration mechanisms could significantly improve our understanding pathological protective processes with sex-dependent profiles. This survey discusses dedicated bioinformatics approaches study in diseases. It highlights that, beyond classical statistical methods, are needed integrate prior knowledge relevant hormone signaling interactions, gene regulatory networks, linkage genes provide mechanistic interpretation alterations disease. The review examines compares advantages, pitfalls limitations various conventional systems-level analyses this purpose, including tailored pathway network analysis techniques. Overall, potential specialized techniques systematically investigate diseases, inform biomarker signature modeling, guide personalized treatment approaches.

Язык: Английский

Процитировано

0
Devising Breast Cancer Diagnosis Protocol through Machine Learning DOI Creative Commons
Tooba Mujtaba

Research Square (Research Square), Год журнала: 2024, Номер unknown

Опубликована: Фев. 28, 2024

Abstract Breast cancer is a life threatening disease and have serious implications to health. It further categorized on the bases of receptors including ER+ HER2-. multifaceted that has many subcategories characterized by unique genetic features. This research focuses two important subgroups receptors, We conducted an analysis gene expression data obtained from reliable source (Array Express: E-GEOD-52194, E-GEOD-75367, E-GEOD-58135) in order reveal complex molecular details these subtypes. The computational pipeline we used identified 396 genes exhibited distinct patterns HER2- breast cancers. diagnostic prognostic significance was evaluated using machine learning methods, namely SVM decision tree models. Metrics like as accuracy, sensitivity, specificity provide insights into their usefulness. Furthermore, use STRING database for network revealed significant signaling pathways biological processes associated with development cancer. results our enhance comprehension subcategories, which might possibly facilitate more accurate diagnoses focused treatment interventions. work provides valuable information foundations cancer, potential enhancing patient outcomes.

Язык: Английский

Процитировано

0