Results 11 to 20 of about 116,502 (262)

Germline mutations predisposing to melanoma [PDF]

Journal of Cutaneous Pathology, 2020
AbstractNearly 15% of melanomas occur in patients with a family history and a subset of these patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations are responsible for the majority of hereditary melanoma, but many other susceptibility genes have been discovered in recent years, including CDK4, TERT, ACD, TERF2IP, POT1 ...
Atrin Toussi, Nicole Mans, Jeanna Welborn, Maija Kiuru   +3 more
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Three germline mutations in theTP53 gene [PDF]

Human Mutation, 1997
Three germline mutations in the TP53 tumor-suppressor gene are reported, two of which are not reported previously. A missense mutation at codon 265 of TP53 was found in three patients of a family that complied with the definition of the Li-Fraumeni syndrome.
Cornelis, R.S., van Vliet, M., van de Vijver, M.J., Vasen, H.F.A., Voûte, P.A., Top, B., Meera Khan, P., Devilee, P., Cornelisse, C.J.   +8 more
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Complex Germline K757N Mutation in Non-Small-Cell Lung Cancer: A Case Report

Case Reports in Oncology, 2022
Epidermal growth factor receptor (EGFR) mutations are usually oncogenic drivers of lung tumor development and progression. While common sensitizing mutations respond well to targeted therapy, the relevance of germline EGFR mutations is less clear.
Boaz Wong, Sara Moore, Paul Wheatley-Price   +2 more
doaj   +1 more source

Impact of BRCA1/2 germline mutation on the incidence of second primary cancer following postoperative radiotherapy in patients with triple-negative breast cancer [PDF]

Zhongguo aizheng zazhi
Background and purpose: BRCA1/2 plays an important role in maintaining the genome stability. Whether BRCA1/2 germline mutation could increase the tumor sensitivity to radiotherapy, thereby inducing secondary primary cancer after radiotherapy is unclear ...
HU Xiaoyu, CAI Yuwen, YE Fugui, SHAO Zhimin, HU Weigang, YU Keda
doaj   +1 more source

Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China

Hereditary Cancer in Clinical Practice, 2021
DNA mismatch repair (MMR) genes play an important role in maintaining genome stability. Germline mutations in MMR genes disrupt the mismatch repair function and cause genome instability.
Min Zhang, Tianhui Chen
doaj   +1 more source

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
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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

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
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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

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