Sestrin2 loss could be a universal mechanism of human colon carcinogenesis that allows for barrier dysfunction, mTORC1 hyperactivation, unrestricted tumor growth and chemoresistance.
The anti-cancer or lifespan extension properties of a novel genetically engineered hematopoietic blood system could be transferred horizontally in mice, which suggests a new direction of biomedical research for anti-aging/antidisease.
Bilallelic mutations of FANCM, a DNA-damage response gene whose heterozygous mutations predispose to breast cancer, are involved in a familial case of Primary Ovarian Insufficiency establishing a link between infertility and cancer.
Nerve tracing and behavioral studies in tumor-bearing mice together with transcriptional and functional analysis reveal cancer-induced central and peripheral neuronal alterations that influence behavior.
Hirokazu Kimura, Raymond M Paranal ... Nicholas J Roberts
Over 40% of CDKN2A variants of uncertain significance identified in patients with pancreatic cancer are functionally deleterious and can be reclassified as likely pathogenic with implications for care of patients and their relatives.
Susceptibility to uterine fibroids, benign tumors that affect the health of many women, is linked to genes that are responsible for preserving genome integrity and promoting genitourinary development.
Melanie MY Chan, Omid Sadeghi-Alavijeh ... Daniel P Gale
A genome-wide association study using whole-genome sequencing data identifies the first known susceptibility genes for posterior urethral valves, the most common cause of kidney failure in boys, implicating the transcription factor TBX5 and planar cell polarity gene PTK7.
Robbyn L Weaver, Jazeel F Limzerwala ... Jan M van Deursen
Strengthening of spindle assembly checkpoint activity and attachment error correction through BubR1 manipulation preserves genomic integrity and protects against tumor formation.