Results 21 to 30 of about 123,315 (302)

Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients

BMC Cancer, 2020
Background Germline TP53 mutations are associated with Li-Fraumeni syndrome, a severe and rare hereditary cancer syndrome. Despite the rarity of germline TP53 mutations, the clinical implication for mutation carriers and their families is significant ...
Ava Kwong, Vivian Yvonne Shin, Cecilia Y. S. Ho, Chun Hang Au, Thomas P. Slavin, Jeffrey N. Weitzel, Tsun-Leung Chan, Edmond S. K. Ma   +7 more
doaj   +1 more source

A modified screening strategy for Lynch syndrome among MLH1-deficient CRCs: Analysis from consecutive Chinese patients in a single center

Translational Oncology, 2021
Background: The low prevalence of the BRAF V600E mutation in colorectal cancers (CRCs) in Chinese populations has stimulated concern about the efficacy of BRAF mutation analysis for Lynch syndrome (LS) screening.
Wenmiao Wang, Jianming Ying, Susheng Shi, Qiurong Ye, Shuangmei Zou, Lin Dong, Ning Lyu   +6 more
doaj   +1 more source

Germline mutation of ARF in a melanoma kindred [PDF]

Human Molecular Genetics, 2002
Familial melanoma predisposition is associated with germline mutations at the CDKN2A/ARF locus in up to 40% of families. The exact role of the two proteins encoded by this complex locus in this predisposition is unclear. Most mutations affect either CDKN2A only or products of both genes.
Hewitt, Chelsee, Wu, Chu Lee, Evans, Gareth; id_orcid 0000-0002-8482-5784, Howell, A.; id_orcid 0000-0002-6233-719X, Elles, Robert G., Jordan, Richard, Sloan, Philip, Read, Andrew P., Thakker, Nalin   +8 more
openaire   +3 more sources

Succinate dehydrogenase (SDH)-deficient renal carcinoma:a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients [PDF]

, 2014
Succinate dehydrogenase (SDH)-deficient renal carcinoma has been accepted as a provisional entity in the 2013 International Society of Urological Pathology Vancouver Classification.
Sedivcová, Monika, Yu, Darryl, Papathomas, Thomas, Niemeijer, Nicolasine D., Przybycin, Christopher, Nicoll, Katherine D, Paik, Julie, Miettinen, Markku, Yong, Jim L., Kedziora, Andrew, Andresen, Per Arne, Hes, Ondrej, Toon, Christopher W., Robinson, Bruce G, Corssmit, Eleonora P M, Michal, Michal, Chou, Angela, Hills, Kirsten, Nicoll, Katherine D., Clarkson, Adele, Clifton-bligh, Roderick J., Yong, Jim L, Maclean, Fiona, Yilmaz, Asli, Vlatkovic, Ljiljana, Niemeijer, Nicolasine D, Hartmann, Arndt, Sibony, Mathilde, Agaimy, Abbas, McKenney, Jesse K, Robinson, Bruce G., Van Leenders, Geert J.l.h., Chow, Chung W., Sioson, Loretta, Mckenney, Jesse K., Corssmit, Eleonora P.m., Tan, Puay Hoon, van Leenders, Geert J L H, Yakirevich, Evgeny, Trpkov, Kiril, Benn, Diana E., Gill, Anthony J., Chow, Chung W, Watson, Nicole, Fleming, Stewart, Magi-Galluzzi, Cristina, Clifton-Bligh, Roderick J   +46 more
core   +1 more source

Properties and rates of germline mutations in humans [PDF]

Trends in Genetics, 2013
All genetic variation arises via new mutations; therefore, determining the rate and biases for different classes of mutation is essential for understanding the genetics of human disease and evolution. Decades of mutation rate analyses have focused on a relatively small number of loci because of technical limitations.
Catarina D, Campbell, Evan E, Eichler
openaire   +2 more sources

Germline Mutations for Kidney Volume in ADPKD [PDF]

Kidney International Reports, 2022
Valid prediction models or predictors of disease progression in children and young patients with autosomal dominant polycystic kidney disease (ADPKD) are lacking. Although total kidney volume (TKV) and Mayo imaging classification are generally used to predict disease progression in patients with ADPKD, it remains unclear whether germline mutation types
Hiroshi Kataoka, Rie Yoshida, Naomi Iwasa, Masayo Sato, Shun Manabe, Keiko Kawachi, Shiho Makabe, Taro Akihisa, Yusuke Ushio, Atsuko Teraoka, Ken Tsuchiya, Kosaku Nitta, Toshio Mochizuki   +12 more
openaire   +3 more sources

Mutations of the ret protooncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype. [PDF]

, 1996
It has been suggested that not only the position but also the nature of the mutations of the ret protooncogene strongly correlate with the clinical manifestation of the multiple endocrine neoplasm type 2 (MEN 2) syndrome.
Rendl, J., Frank-Raue, K., Höppner, W., Haase, R., Mann, K., Deckart, H. F., Ritter, M. M., Frilling, A., Scholz, G. H., Dralle, H., Kirchner, R., Kotzerke, J., Klempa, J., Hampel, R., Raue, F., Seif, F.   +15 more
core   +1 more source

Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation

BMC Cancer, 2022
Background Increasing germline gene mutations have been discovered in haematological malignancies with the development of next-generation sequencing (NGS), which is critical for proper clinical management and long-term follow-up of affected individuals ...
Xia Wu, Jili Deng, Nanchen Zhang, Xiaoyan Liu, Xue Zheng, Tianyou Yan, Wu Ye, Yuping Gong   +7 more
doaj   +1 more source

The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers [PDF]

, 2004
<p>Introduction: The androgen receptor (AR) gene exon 1 CAG repeat polymorphism encodes a string of 9–32 glutamines. Women with germline BRCA1 mutations who carry at least one AR allele with 28 or more repeats have been reported to have an earlier ...
Antoniou, A.C., Spurdle, A.B., Cook, M.R., Purdie, David M., Susan Peock, Hopper, John L., Easton, Douglas, Newman, B, kConFaB, Antoniou, AC, Kelemen, Livia, Tobias, E.S., Smith, Paula, Pandeya, N, Giles, GG, Beth Newman, Giles, Graham, Chenevix-Trench, Georgia, Cook, Margaret, Apicella, Carmel, Nirmala Pandeya, Easton, Douglas F., Melissa C Southey, Southey, M.C., Antoniou, Antonis, Purdie, David, Chenevix-Trench, G, Cook, MR, Peock, Susan, Apicella, C., Giles, G.G., Apicella, C, Purdie, D.M., Xiaoqing Chen, Antoniou, Antonis C., David L Duffy, Margaret R Cook, Duffy, David, Newman, Beth, ABCFS, Duffy, D.L., Pandeya, N., Amanda B Spurdle, Dite, Gillian S., Giles, Graham G., Georgia Chenevix-Trench, Smith, Paula L., Newman, B., Gillian S Dite, Hopper, J.L., John L Hopper, Southey, MC, Chen, Xiaoqing, Chen, X., Cook, Margaret R., Chen, X, Duffy, David L., EMBRACE Study Collaborators, Purdie, DM, Hopper, JL, Easton, D.F., Dite, Gillian, Douglas F Easton, David M Purdie, Southey, Melissa, Smith, P.L., AJBCS, Chenevix-Trench, G., Dite, GS, Spurdle, Amanda, Peock, S., Antonis C Antoniou, Chevenix-Trench, Georgia, Dite, G.S., Spurdle, Amanda B., Carmel Apicella, Spurdle, AB, Kelemen, L., Pandeya, Nirmala, Smith, PL, Kelemen, L, Easton, DF, Southey, Melissa C., Paula L Smith, Hopper, John, Livia Kelemen, Duffy, DL, Peock, S, Graham G Giles   +88 more
core   +1 more source

Germline mutations: many roles in leukemogenesis

Current Opinion in Hematology, 2020
Purpose of review The purpose of this review is to summarize the current understanding of germline mutations as they contribute to leukemia development and progression. We also discuss how these new insights may help improve clinical management of germline mutations associated with leukemia ...
Kevin Z, Chen, Rafi, Kazi, Christopher C, Porter, Cheng-Kui, Qu   +3 more
openaire   +3 more sources