Results 141 to 150 of about 13,351 (224)

Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes [PDF]

, 2000
Joseph G. Gleeson, Sharon Minnerath, Ruben Kuzniecky, William B. Dobyns, I D Young, M. Elizabeth Ross, Christopher A. Walsh   +6 more
openalex   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Prophylactic mastectomy and occult malignancy: Surgical and imaging considerations

Journal of Surgical Oncology, Volume 127, Issue 1, Page 18-27, January 2023., 2023
Abstract Background Sentinel node biopsy (SLNB) is not routinely recommended for patients undergoing prophylactic mastectomy (PM), yet omission remains a subject of debate among surgeons. A modern patient cohort was examined to determine occult malignancy (OM) incidence within PM specimens to reinforce current recommendations.
Jessica L. Thompson, Brandy R. Sinco, Rachel L. McCaffrey, Alfred E. Chang, Michael S. Sabel, Lesly A. Dossett, Tasha M. Hughes, Jacqueline S. Jeruss   +7 more
wiley   +1 more source

Germline versus somatic mutations of the APC gene: Evidence for mechanistic differences

, 1997
Brendan Marshall, Glória Isidro, Raquel Carvalhas, Maria Guida Boavida   +3 more
openalex   +1 more source

Genotype/Phenotype and Penetrance Studies in Melanoma Families with Germline CDKN2A Mutations [PDF]

, 2000
Julia Newton‐Bishop, Rachel Wachsmuth, Mark Harland, Veronique Bataille, Elizabeth Pinney, Patricia Fogarty Mack, Laura Baglietto, Jack Cuzick, D. Timothy Bishop   +8 more
openalex   +1 more source

Low Prevalence of Germline CDKN2A and CDK4 Mutations in Patients With Early-Onset Melanoma

, 2000
Hensin Tsao, Xue Zhang, Kimberly Kwitkiwski, Dianne M. Finkelstein, Arthur J. Sober, Frank G. Haluska   +5 more
openalex   +1 more source

Frequency ofBRCA1 andBRCA2 germline mutations in Japanese breast cancer families [PDF]

, 2000
Noriko Ikeda, Yasuo Miyoshi, K. Yoneda, Eiichi Shiba, Yoshizo Sekihara, Moritoshi Kinoshita, Shinzaburo Noguchi   +6 more
openalex   +1 more source

Editorial Comment on “Two cases of CRPC with BRCA mutation treated by olaparib after favorable response to cisplatin”

, 2023
IJU Case Reports, Volume 6, Issue 1, Page 40-40, January 2023.
Koji Hatano
wiley   +1 more source

Inactivation of Germline Mutant APC Alleles by Attenuated Somatic Mutations: A Molecular Genetic Mechanism for Attenuated Familial Adenomatous Polyposis [PDF]

, 2000
Li-Kuo Su, Christopher J. Barnes, W.Q. Yao, Qi Yi, Patrick M. Lynch, Gideon Steinbach   +5 more
openalex   +1 more source

Rare germline ATM variants predispose to secondary cancer in chronic lymphocytic leukaemia patients

Cancer Communications, EarlyView.
Anna Petrackova, Jirina Manakova, Romana Nesnadna, Zuzana Kubova, Tomas Papajik, Eva Kriegova   +5 more
wiley   +1 more source