Results 181 to 190 of about 34,642 (259)

Germline, hematopoietic, mosaic, and somatic variation: interplay between inherited and acquired genetic alterations in disease assessment [PDF]

, 2016

core   +1 more source

A missed opportunity for preventing CMMRD: is it time to include Lynch syndrome genes in prenatal genetic testing? [PDF]

BMJ Case Rep
Nair G, Cadenas N, Singh A.
europepmc   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, EarlyView.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Cowden Syndrome With a Co-existing Lynch Syndrome Risk Mutation. [PDF]

Cureus
Alajaimi A, Alderazi Y, Alshaikh S.
europepmc   +1 more source

Associations Between Obesity, Diabetes Mellitus, and Pancreatic Cancer in the Japanese Population: A Mendelian Randomization Study

Cancer Science, EarlyView.
Our Mendelian Randomization analysis provides evidence supporting a causal association between genetic predisposition to T2D, independent of BMI, and an increased risk of pancreatic cancer in the Japanese population, corroborating findings from observational studies.
Yingsong Lin, Haruki Sasado, Naoki Sasahira, Makoto Ueno, Hiroshi Ishii, Naoto Egawa, Yasushi Adachi, Masato Ozaka, Satoshi Kobayashi, Yuriko N. Koyanagi, Sayaka Yamamoto, Hidemi Ito, Akira Narita, Mika Sakurai‐Yageta, Takuji Okusaka, Aya Kuchiba, Teruhiko Yoshida, Fumihiko Matsuda, Yoichiro Kamatani, Shiori Nakano, Taiki Yamaji, Norie Sawada, Aya Kadota, Kiyonori Kuriki, Takeshi Watanabe, Nobuo Fuse, Kengo Kinoshita, Naoki Nakaya, Yoichi Sutoh, Yayoi Otsuka‐Yamasaki, Kozo Tanno, Ken Suzuki, Toshimasa Yamauchi, Takashi Kadowaki, BioBank Japan, Motoki Iwasaki, Sho Nakamura, Atsushi Hozawa, Atsushi Shimizu, Shogo Kikuchi, Masahiro Nakatochi, Keitaro Matsuo   +41 more
wiley   +1 more source

An intriguing journey into the hereditary syndromes predisposing to endometrial cancer: more than believed. [PDF]

Ther Adv Med Oncol
Fanale D, Magrin L, Corsini LR, Pedone E, Brando C, Bazan Russo TD, Ferraro P, Carobene K, Cipolla EA, Colletta G, Puglisi M, Galvano A, Vieni S, Pantuso G, Giannone AG, Badalamenti G, Incorvaia L, Russo A, Bazan V.   +18 more
europepmc   +1 more source

Genetic Testing and Counselling for Hereditary Renal Carcinoma: What Do Clinicians Need to Know? [PDF]

Eur Urol Open Sci
Re C, Pecoraro A, Stewart GD, Caliò A, Erdem S, Kalayci T, Uyguner ZO, Larcher A, Campi R, Amparore D, Whitworth J, Marandino L, European Association of Urology Young Academic Urologists Renal Cancer Working Group.   +12 more
europepmc   +1 more source

Clinical Challenges in Transition to Adult Care for Young People With Endocrinopathies

Clinical Endocrinology, EarlyView.
ABSTRACT The complexity of transition of pediatric patients to adult care is well recognized, with a multidisciplinary approach widely agreed to be essential. Despite extensive existing literature in this area, practical guidance as to the management of specific medical aspects and how to address these with patients and families is lacking, with little
Margaret Zacharin, Quynh‐Nhu Nguyen
wiley   +1 more source

Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications. [PDF]

Arch Gynecol Obstet
Krückel A, Gocke J, Hörner M, Keller K, Müller C, Brückner L, Heindl F, Hack CC, Beckmann MW, Amann N.   +9 more
europepmc   +1 more source

Presenting Clinical Features of Vitreoretinal Lymphoma

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background Vitreoretinal lymphoma is a rare cancer, widely recognised to present diagnostic challenges. We aimed to report information that would support the clinician in considering this diagnosis. Methods We interrogated the International Vitreoretinal B‐Cell Lymphoma Registry for clinical data from patients newly diagnosed with ...
The International Vitreoretinal B‐Cell Lymphoma Registry Investigator Group, Mara Albert‐Fort, Sofia Androudi, Neni Anggraini, Atitaya Apivatthakakul, J. Fernando Arevalo, Meghan K. Berkenstock, Ester Carreño, Anita S.Y. Chan, Soon‐Phaik Chee, Fred K. Chen, Janejit Choovuthayakorn, Luca Cimino, Elisa E. Cornish, Gábor G. Deák, Alexandra L. Farrall, Christina J. Flaxel, Marion Funk, Zsuzsanna Gehl, Pietro Gentile, Debra A. Goldstein, John A. Gonzales, Fabrizio Gozzi, Antonio Hernández‐Pons, Samar Issa, Timothy M. Janetos, Hyeong Min Kim, Min Kim, Jared E. Knickelbein, Zachary A. Kroeger, Paradee Kunavisarut, Rina La Distia Nora, Seung Min Lee, Lyndell L. Lim, Ming Lee Lin, Victor Llorenç, Yunhua Loo, Lucía Martínez‐Costa, Janet M. Matthews, Peter J. McCluskey, David L. McKay, Matteo Menean, Elisabetta Miserocchi, Manabu Mochizuki, Rachael L. Niederer, Roderick F. O’day, Amy S. Pai, Alan G. Palestine, Kessara Pathanapitoon, Mark H.B. Radford, Josephine Richards, Sukhum Silpa‐archa, Joanne L. Sims, Justine R. Smith, Robert T. Swan, Yukiko Terada, Daniel V. Vasconcelos‐Santos, Anagha Vaze, Samanthila Waduthantri, Travers R.E. Weaver, Keryn L. Williams, Se Joon Woo, Richard J. Woodman, Frances Wu, Christine Younan   +64 more
wiley   +1 more source