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One in twelve malignancies is diagnosed in a young adult between 20 and 39 years of age. One of the most relevant known causes of cancer in this age group, which is present in approximately 10% of cancer patients, is genetic cancer predisposition that originates from constitutional or postzygotic somatic (epi-)genetic variants leading to an increased cancer risk compared to the general population. The diagnosis of a cancer predisposition syndrome is important as it can affect cancer surveillance, prevention, and therapy. Universal gene-panel germline sequencing is offered by some centers, however, in clinical settings with limited resources, cancer predisposition syndrome screening tools can support the identification of those cancer patients who may benefit from genetic counselling and/or testing regarding underlying genetic diseases. Effective screening tools have been developed for children with cancer, but comparable cancer predisposition syndrome screening algorithms are lacking for young adults with cancer. We present here an easy-to-use cancer predisposition syndrome screening tool designed specifically for young adults with cancer. By combining available recommendations and disease-specific criteria, the algorithm is focusing on somatic genetic findings in malignant cells, specific cancer types strongly associated with cancer predisposition syndromes, and the personal and family past medical history. This tool may increase clinical awareness among oncologists and facilitate the diagnoses of cancer predisposition syndromes in young adults with cancer.
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http://dx.doi.org/10.1093/jnci/djaf150 | DOI Listing |
Oncogene
September 2025
Department of Breast Surgery, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China.
Cholesterol biosynthesis is more activated in triple negative breast cancer (TNBC) than in other subtype breast cancer and plays essential role in facilitating TNBC. However, the regulatory network and how cholesterol biosynthesis contribute to TNBC development and progression are not well elucidated. Here, we found that reticulum membrane protein complex 2 (EMC2) is highly expressed in TNBC and predicts short survival of patients.
View Article and Find Full Text PDFJCO Precis Oncol
September 2025
Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, Napoli, Italy.
Purpose: Tumor comprehensive genomic profiling (CGP) may detect potential germline pathogenic/likely pathogenic (P/LP) alterations as secondary findings. We analyzed the frequency of potentially germline variants and large rearrangements (LRs) in the RATIONAL study, an Italian multicenter, observational clinical trial that collects next-generation sequencing-based tumor profiling data, and evaluated how these findings were managed by the enrolling centers.
Patients And Methods: Patients prospectively enrolled in the pathway-B of the RATIONAL study and undergoing CGP with the FoundationOne CDx assays were included in the analysis.
Front Immunol
September 2025
Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha, Qatar.
Cancer is a multifaceted disease driven by a complex interplay of genetic predisposition, environmental factors and lifestyle habits. With the accelerating pace of cancer research, the gut microbiome has emerged as a critical modulator of human health and immunity. Disruption in the gut microbial populations and diversity, known as dysbiosis, has been linked with the development of chronic inflammation, oncogenesis, angiogenesis and metastasis.
View Article and Find Full Text PDFAm J Hematol
September 2025
Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Of 313 patients with early-onset or familial MPN, 7 (2.2%) patients had pathogenic/likely pathogenic (P/LP) germline heterozygous loss of function mutations in CHEK2. The presence of CHEK2 variants was associated with a familial history of malignancies and a higher risk of leukemic evolution, reinforcing the hypothesis of CHEK2 variants as tumor predisposing risk allele.
View Article and Find Full Text PDFNat Commun
September 2025
Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, 90033, California, USA.