Identification of a Novel Germline PPP4R3A Missense Mutation Asp409Asn on Familial Non-Medullary Thyroid Carcinoma

Autor: Yixuan Hu, Zhuojun Han, Honghao Guo, Ning Zhang, Na Shen, Yujia Jiang, Tao Huang

Publikováno v: Biomedicines, Vol 12, Iss 1, p 244 (2024)

Familial non-medullary thyroid carcinoma (FNMTC) accounts for 3% to 9% of all thyroid cancer cases, yet its genetic mechanisms remain unknown. Our study aimed to screen and identify novel susceptibility genes for FNMTC. Whole-exome sequencing (WES) w

Externí odkaz: https://doaj.org/article/687ea34deb62416189cc09d8efbcf9c1

Clinical, Pathological and Molecular Characteristics of Chilean Patients with Early-, Intermediate- and Late-Onset Colorectal Cancer

Autor: Karin Alvarez, Alessandra Cassana, Marjorie De La Fuente, Tamara Canales, Mario Abedrapo, Francisco López-Köstner

Publikováno v: Cells, Vol 10, Iss 3, p 631 (2021)

Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical, pathologic

Externí odkaz: https://doaj.org/article/26828bc780e24709863802ae5507b8b0

Systematic associations between germ-line mutations and human cancers

Autor: Al-Shammari, Mohamad H., Tobin, Desmond J., Peng, Yonghong

Yes
The revolution in Big Data has opened the gate for new research challenges in biomedical science. The aim of this study was to investigate whether germ-line gene mutations are a significant factor in 29 major primary human cancers. Using dat

Externí odkaz: http://hdl.handle.net/10454/11744

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Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy

Autor: Frederik J. Hes, Hans Morreau, Alexandra M. J. Langers, Sanne W. ten Broeke, Tom van Wezel, Carli M. J. Tops, Hans J. J. P. Gille, Yvonne J. Vos, Maartje Nielsen, Manon Suerink, Sunny S. Singh, Diantha Terlouw, Hans F. A. Vasen

Publikováno v: Terlouw, D, Suerink, M, Singh, S S, Gille, H J J P, Hes, F J, Langers, A M J, Morreau, H, Vasen, H F A, Vos, Y J, van Wezel, T, Tops, C M, ten Broeke, S W & Nielsen, M 2020, ' Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy ', European Journal of Human Genetics, vol. 28, no. 2, pp. 222-230 . https://doi.org/10.1038/s41431-019-0509-z
European Journal of Human Genetics, 28(2), 222-230. Nature Publishing Group
European Journal of Human Genetics, 28(2), 222-230. NATURE PUBLISHING GROUP
Eur J Hum Genet

This study aimed to determine the prevalence of APC-associated familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) in a large cohort, taking into account factors as adenoma count and year of diagnosis. All application forms used

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a64ca54262a0c958c6619eb8e537d20b
https://doi.org/10.1038/s41431-019-0509-z