Results 121 to 130 of about 13,351 (224)

A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Leanne de Kock   +8 more
wiley   +1 more source

A radiological complete response to pembrolizumab in a patient with metastatic upper urinary tract urothelial cancer and Lynch syndrome

open access: yesIJU Case Reports, Volume 6, Issue 1, Page 33-36, January 2023., 2023
Introduction In Lynch syndrome, urothelial cancer is the third most common cancer, following colorectal and endometrial cancers. Little is known, however, about the efficacy of immune checkpoint inhibitors in the treatment of metastatic urothelial cancer in Lynch syndrome.
Ryosuke Oki   +7 more
wiley   +1 more source

Analysis of bothTSC1 andTSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

open access: gold, 1999
Yo Niida   +8 more
openalex   +1 more source

Two cases of CRPC with BRCA mutation treated by olaparib after favorable response to cisplatin

open access: yesIJU Case Reports, Volume 6, Issue 1, Page 37-40, January 2023., 2023
Introduction Several prostate cancers carry homologous recombination repair mutations that respond to olaparib. Because of the mechanism, the efficacy of platinum‐based therapy can be used to predict the efficacy of poly(adenosine diphosphate‐ribose) polymerase inhibitors such as olaparib.
Yoshiyuki Miyazawa   +9 more
wiley   +1 more source

Individuals with presumably hereditary uveal melanoma do not harbour germline mutations in the coding regions of either the P16INK4A, P14ARF or cdk4 genes [PDF]

open access: hybrid, 2000
Nadem Soufir   +7 more
openalex   +1 more source

Pan‐cancer analysis shapes the understanding of cancer biology and medicine

open access: yesCancer Communications, EarlyView.
Abstract Advances in multi‐omics datasets and analytical methods have revolutionized cancer research, offering a comprehensive, pan‐cancer perspective. Pan‐cancer studies identify shared mechanisms and unique traits across different cancer types, which are reshaping diagnostic and treatment strategies.
Xiaoping Cen   +21 more
wiley   +1 more source

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan

open access: gold, 1996
Berton Zbar   +25 more
openalex   +1 more source

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