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CANCER
GENETICS
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Mca13-022 | Cancer-Type Specific Prognostic Impact of Concurrent TP53 and KRAS Alterations: A Multi-Cohort Genomic Analysis |
| Quote: | Patients harboring concurrent TP53 and KRAS alterations exhibited significantly shorter overall survival in pancreatic cancer, colorectal cancer, and ampullary carcinoma, but surprisingly demonstrated the longest survival in gastric cancer. ... The prognostic significance of TP53 and KRAS alterations is profoundly cancer-type specific, driven by differences in mutation subtype distribution, copy number alteration patterns, co-occurring genetic events, and the discordance between genotype and functional expression.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.29.26349383v2 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.29.26349383v2.full-text |
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Guangchao Pan,
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CANCER
GENETICS
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Mge13-004 | Whole-Genome Landscape of Breast Cancers from India shows Distinct Clinically Actionable Subtypes |
| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.27.26349506v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.27.26349506v1.full-text |
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Divya Khanna, Arnab Ghosh, Priyanka Bhadwal, Ramakanth Chirravuri-Venkata, Leepakshi Dhingra, Subrata Das, Isha Choubey, Ankita Singh, Geeta Jadaun, Hriday Home Chowdhury, Vibha Mattoo, Pooja Dixit, Suryanshi Tiwari, Safeer Khan, Vinit Gupta, Tuneer R. Mallick, Surya Narayan Mishra, Tulasi Nagabandi, Venkata Krishna Vanamamalai, Malini Nemalikanti, Renu Kumari, Diksha Singhal, Laxmi Yadav, Vaishali Pandey, Shailya Verma, Rashmi Gudur, Senthil Kumar, Susanta Roychoudhury, Rohan Chaubal, Sonam Dhamija, Koushik Mondal, Lipi Thukral, Aruna Korlimarla, Rekha V Kumar, Ashutosh Mishra, Bhawna Sirohi, SVS Deo, Samir Bhattacharya, B S Srinath, Juhi Tayal, Anurag Mehta, Shilpak Chatterjee, Sanjeev Khosla, Divya Tej Sowpati, Kumardeep Chaudhary, Karthik Bharadwaj Tallapaka, Sherry Bhalla, Nidhan K. Biswas, Sudeep Gupta, Shantanu Chowdhury,
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PRIME
AGING
COGNITION
GENETICS
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Mge13-012 | Genetic and epigenetic regulation of SLC6A4 shapes vulnerability to cognitive decline and depressive tendency in later life |
| Quote: | DNA methylation at a functional promoter CpG site increased with age and partially mediated age-related cognitive decline specifically among low-activity genotypes. In contrast, the high-activity genotype was associated with relative resistance to these functional declines, partly mediated by a protective effect on hippocampal volume during aging. Notably, genotype-dependent effects on hippocampal volume were absent in adolescence, indicating that the influence of SLC6A4 emerges in an aging-specific manner. Together, these findings identify SLC6A4 promoter activity as a key genetic factor modulating vulnerability and resilience in later life.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.26.26349121v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.26.26349121v1.full-text |
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The+Japan+Prospective+Studies+Collaboration+for+Aging+and+Dementia+(JPSC-AD)+study+group&t=50" TARGET=auth>Yutaro Yanagida, Yutaka Nakachi, Naoto Kajitani, Satoshi Kikkawa, Tempei Ikegame, Shinsuke Koike, Norihide Maikusa, Naohiro Okada, Izumi Naka, Jun Ohashi, Hiroko Sugawara, Kazuhiro Yoshiura, Ayaka Fujii, Emi Kiyota, Risa Watanabe, Yui Murata, Yasuyuki Taki, Yasuko Tatewaki, Benjamin Thyreau, Yuji Takano, Manabu Makinodan, Norio Sakai, Tomohisa Ishikawa, Yosuke Hidaka, Mamoru Hashimoto, Yoshihiko Furuta, Tomoyuki Ohara, Toshiharu Ninomiya, Kiyoto Kasai, Minoru Takebayashi, Miki Bundo, Kazuya Iwamoto, span class="nlm-collab" data-hwp-id="collab-1">The Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD) study group,
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DIABETES
GENETICS
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Mge13-018 | Leveraging human genetic variation to therapeutically target hundreds of genes with dominant dispensable disease alleles |
| Quote: | n some disease genes, this approach would allow 80 times as many patients to be treated as mutation-specific strategies. DD alleles cause diverse diseases, including neurodegeneration, cardiomyopathies, retinopathies, and diabetes, demonstrating the therapeutic opportunity of this approach across physiological systems.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.26.26349431v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.26.26349431v1.full-text |
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Grace D Ramey, Quinn T Cowan, Akshita G Saxena, Bria L Macklin, Hannah L Watry, Serafina Mei, Philip Dierks, Luke M Judge, Bruce R Conklin, John A Capra,
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GENETICS
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Mge13-022 | The Russian FSHD registry: a first look at the cohort |
| Quote: | Conclusion: The Russian FSHD registry provides a comprehensive characterization of a large national cohort, revealing a predominance of patients with 3 D4Z4 repeats and a younger demographic profile compared to international data.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.31.26349837v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.31.26349837v1.full-text |
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Anna Kuchina, Darya Sherstyukova, Artem Borovikov, Margarita Soloshenko, Nikolay Zernov, Dmitrii Subbotin, Elena Dadali, Inna Sharkova, Galina Rudenskaya, Sergey Kutsev, Mikhail Skoblov, Aysylu Murtazina,
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PRIME
DISEASE
GENETICS
PRIVACY
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Mim13-002 | Utility of 3D Facial Analysis As A Biomarker In Rare Diseases Exploration with Hereditary Angioedema |
| Quote: | Importance Digital Phenotyping DP utilizes digital technologies to assess observable phenotypic traits, enhancing our understanding of various disease states. It aims to support equitable interventions through diverse digital data, fostering inclusivity by integrating various digital devices.
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| Comment:
| Chinese stud4y, buiolt-in discrimination for social crediit scorekeeping, medical privacy violation, etc..
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.26.26349135v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.26.26349135v1.full-text |
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Saumya Jamuar, Richard Palmer, Lee Haur Yueh, Faith Li-Ann Chia, Choo Beng Goh, Stuart Lee, Petra Helmholz, Shermaine Chan, Gareth Baynam,
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AGING
GENETICS
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Mne13-016 | Bridging Genetics and Precision Medicine in Parkinsons Disease through GP2 |
| Quote: | GP2s unified framework supports equitable recruitment for gene-targeted therapeutic studies and helps address critical gaps in Parkinsons disease genetics and future therapeutic development.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.26.26349418v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.26.26349418v1.full-text |
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the+Global+Parkinson's+Genetics+Program+(GP2)&t=50" TARGET=auth>Kajsa Atterling Brolin, Lara M Lange, Emily Navarro-Jones, Simona Jasaityte, Yuan Ye Beh, Zih-Hua Fang, Hirotaka Iwaki, Lietsel Jones, Christine Klein, Teresa Kleinz, Hampton L Leonard, Ignacio Mata, Alastair Noyce, Njideka U Okubadejo, Paula Saffie Awad, Laurel Screven, Ai Huey Tan, Marco Toffoli, Dan Vitale, Andrew Singleton, Cornelis Blauwendraat, Mike A Nalls, Huw Morris, span class="nlm-collab" data-hwp-id="collab-1">the Global Parkinson's Genetics Program (GP2),
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GENETICS
PSYCHOLOGY
REPRODUCTION
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Mob13-030 | Early Epigenetic Biomarkers for Perinatal Suicidal Ideation: DNA Methylation Signatures Across the Peripartum Period |
| Quote: | Our results deliver novel insights regarding the role of DNA methylation and perinatal SI, with biomarkers providing both mechanistic insights and clinical usefulness, contributing to the field of perinatal psychiatry and epigenetics.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.03.30.26349727v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.03.30.26349727v1.full-text |
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Emma Simpson-Wade, Julien Dubreucq, Joelle Ruegg, Alkistis Skalkidou, Marie Elizabeth Gaine,
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