Results 241 to 250 of about 127,260 (361)

Functional Characterization of a Genetic Variant in the 5′ UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Pathogenic germline variants in the APC gene result in familial adenomatous polyposis (FAP) which can escalate into colon cancer. Standard clinical testing failed to identify pathogenic variants in a 4‐generation FAP family. We identified and assessed co‐segregation of a 5′ untranslated region (UTR) variant, NM_001127511.3 (APC) c.‐40G>A ...
Brendon Young, Deborah W. Neklason, Kathleen Clark, Bing‐Jian Feng, Megan B. Keener, Thérèse M. Tuohy, Austin Wood, Wendy C. McKinnon, Marc S. Greenblatt, Sean V. Tavtigian   +9 more
wiley   +1 more source

Endometrial carcinoma: Assessment of myometrial invasion with plain and gadolinium‐enhanced MR imaging [PDF]

, 2000
Fermín Sáez, A. Urresola, José Alejandro Larena, J. I. Martı́n, José Ignacio Pijuan, J. Schneider, Eduardo Fernández Ibañez   +6 more
openalex   +1 more source

Follow-up of hereditary endometrial carcinoma caused by <i>MLH3</i> gene mutation: a case report. [PDF]

Front Oncol
Zhang C, Ye J, Li Q, Zhan J, Yang D, Li J, Li T, Wan T.   +7 more
europepmc   +1 more source

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 ‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Clinical analysis of molecular typing of 146 cases of endometrial carcinoma. [PDF]

Front Oncol
Zhang B, Zhou D, Zhang S, Yan J, Meng Q, Lv Q.   +5 more
europepmc   +1 more source

Activated immune infiltrates expand opportunities for targeted therapy in p53‐abnormal endometrial carcinoma

The Journal of Pathology, Volume 266, Issue 3, Page 292-305, July 2025.
Abstract Tumor protein p53 mutated/abnormal (p53abn) endometrial carcinomas account for over 50% of deaths but comprise only 15% of all endometrial carcinomas. Most patients show limited response to standard‐of‐care chemotherapy with or without radiotherapy, and only a minority of cases are amenable to targeted therapies like poly‐ADP ribose polymerase
Spencer D Martin, Shelby Thornton, Christine Chow, Katy Milne, Juliana Sobral de Barros, Kayleigh A Morris, Samuel Leung, Amy Jamieson, Brad H Nelson, Dawn R Cochrane, David G Huntsman, C Blake Gilks, Lien Hoang, Jessica N McAlpine, Allen W Zhang   +14 more
wiley   +1 more source

Lactylation-related risk model for prognostication and therapeutic responsiveness in uterine corpus endometrial carcinoma. [PDF]

Discov Oncol
Yin Y, Luo M.
europepmc   +1 more source

Cystathionine gamma‐lyase‐mediated hypoxia inducible factor 1‐alpha expression drives clear cell ovarian cancer progression

The Journal of Pathology, Volume 266, Issue 3, Page 352-367, July 2025.
Abstract Clear cell ovarian cancer (CCOC) is the second most common ovarian cancer subtype, accounting for 5%–11% of ovarian cancers in North America. Late‐stage CCOC is associated with a worse prognosis compared to other ovarian cancer histotypes, a challenge that has seen limited progress in recent decades.
Amal M EL‐Naggar, Yuqin Li, Busra Turgu, Yuchen Ding, Longyijie Wei, Shary Yuting Chen, Genny Trigo‐Gonzalez, Forouh Kalantari, Rodrigo Vallejos, Branden Lynch, Janine Senz, Amy Lum, J Maxwell Douglas, Clara Salamanca, Shelby Thornton, Yimei Qin, Kiran Parmar, Sandra E Spencer, Samuel Leung, Michelle MM Woo, Paul J Yong, Hai‐Feng Zhang, Christopher S Hughes, Gian Luca Negri, Yemin Wang, Gregg B Morin, Poul H Sorensen, David G Huntsman   +27 more
wiley   +1 more source

Expression of c-Ets1 is associated with malignant potential in endometrial carcinoma [PDF]

, 2000
Noriyuki Takai, Tami Miyazaki, Kayo Fujisawa, Kaei Nasu, Isao Miyakawa   +4 more
openalex   +1 more source

Study on the expression of S100A4 and HMGA1 in endometrial carcinoma and their correlation with metastasis. [PDF]

Am J Transl Res
Pei X, Nie H, Liu Q, Xu C.
europepmc   +1 more source