Results 51 to 60 of about 837,511 (259)

Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature

BMC Cancer, 2012
Background The frequency of E-cadherin germline mutations in countries with different incidence rates for gastric carcinoma has not been well established.
Corso Giovanni, Marrelli Daniele, Pascale Valeria, Vindigni Carla, Roviello Franco   +4 more
doaj   +1 more source

ETV6-related thrombocytopenia and platelet dysfunction

Platelets, 2021
We and others recently described families with germline heterozygote mutations in ETV6 leading to autosomal dominant highly penetrant thrombocytopenia, red cell macrocytosis and predisposition to leukemia.The bone marrow of affected individuals shows ...
Jorge Di Paola, Marlie H. Fisher
doaj   +1 more source

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes

, 2007
Endometrial carcinoma is the most common gynecological malignancy in the United States. Although most women present with early disease confined to the uterus, the majority of persistent or recurrent tumors are refractory to current chemotherapies.
Mohammadi, Moosa, Davies, H., Goodfellow, Paul, Trent, Jeffrey, Futreal, P., Gartside, Michael, Dejeza, L., Mallon, M., Pollock, Pamela, Powell, Matthew, Stratton, Michael   +10 more
core   +1 more source

Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome [PDF]

, 2003
Germline mutations in the LKB1/STK11 tumour suppressor gene cause Peutz-Jeghers syndrome (PJS), a rare dominant disorder. In addition to typical hamartomatous gastrointestinal polyps and pigmented perioral lesions, PJS is associated with an increased ...
Lim, W., Neale, K, Eccles, D, A G Holbrook, D Eccles, Donaldson, A., Lim, A G, Hearle, N, R K S Phillips, Macdonald, R C, Young, I D, S Vyas, A Lucassen, Tomlinson, I, D Alderson, Lee, P.W., Lim, AG, Lewis, A A M, Lewis, A.A., Holbrook, AG, Young, ID, Swarbrick, E T, Talbot, I, Tomlinson, I., Shah, B., Houlston, R.S., B J Stoodley, Houlston, RS, Macdonald, R.C., Robinson, MH, Lee, PW, P W R Lee, Vyas, S, I Tomlinson, M H Robinson, J O'Donohue, A Donaldson, Stoodley, B J, O'Donohue, J, Donaldson, A, S V Hodgson, I Talbot, I D Young, Robinson, M H, Holbrook, A G, Neale, K., K Neale, Stoodley, B.J., Murday, V, Hodgson, SV, Eccles, D., V Murday, Alderson, D., Lee, P W R, Lim, A.G., Phillips, R.K., Swarbrick, E.T., Alderson, D, Shah, B, Lucassen, A, Lim, W, Holbrook, A.G., O'Donohue, J., Hodgson, S.V., R C Macdonald, Robinson, M.H., Vyas, S., N Hearle, Young, I.D., Murday, V., Talbot, I., A A M Lewis, Hodgson, S V, R S Houlston, Phillips, R K S, Macdonald, RC, B Shah, A G Lim, Stoodley, BJ, Hearle, N., Lucassen, A., Swarbrick, ET, Phillips, RK, E T Swarbrick, W Lim, Lewis, AA, Houlston, R S   +86 more
core   +1 more source

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source

G₁ germline mutations from Crossing Strategy 2.

, 2014
G1 germline mutations from Crossing Strategy 2.
Guanjun Gao (596742), Huhu Xin (596740), Junbiao Dai (147505), Bhaskar Roy (182166), Yungen Miao (596741), Wei Wei (21173)   +5 more
core   +1 more source

Low frequency of germline E-cadherin mutations in familial and nonfamilial gastric cancer [PDF]

, 1999
Little is known about the relative contributions of genetic and environmental factors to the development of gastric cancer. Mutations in the cell adhesion molecule E-cadherin are recognized to be associated with the development of undifferentiated ...
S Bevan, Houlston, RS, Peto, J, Cunningham, D, J Peto, Stone, J, N Rahman, R S Houlston, Marossy, A, A Marossy, A Hill, Rahman, N, Bevan, S, Hill, A, J Stone, D Cunningham   +15 more
core   +1 more source

pathogenic germline mutations identified in cohort of familial BC Egyptian patients

, 2023
In this study we assessed the frequency of germline mutations familial breast cancer (BC) Egyptian patients using multi-gene panel sequencing to better understand the contribution of the inherited germline mutations in BC predisposition. 
auhood nassar (13933647)
core   +1 more source

The VHL tumor suppressor at the crossroad of protein folding, aggregation, and cancer

Molecular Oncology, EarlyView.
Mutations, environmental stress, and chaperone dysfunction can destabilize pVHL, promoting its conversion from the native folded state into amyloid‐like assemblies. This transition may contribute to protein storage, cell dormancy, survival, and drug resistance.
Lara Abad, Silvio Carlo Ermanno Tosatto, Emanuela Leonardi   +2 more
wiley   +1 more source

Identification of the Unique Clinical and Genetic Features of Chinese Lung Cancer Patients With EGFR Germline Mutations in a Large-Scale Retrospective Study

Frontiers in Oncology, 2021
BackgroundEpidemiological surveys have suggested that lung cancer has inherited susceptibility and shows familial aggregation. However, the distribution and prevalence of epidermal growth factor receptor (EGFR) germline variants and their roles in lung ...
Xinqing Lin, Muyun Peng, Quanfang Chen, Mingming Yuan, Rongrong Chen, Haiyi Deng, Jiaxi Deng, Ouqi Liu, Yuqing Weng, Mingjiu Chen, Chengzhi Zhou   +10 more
doaj   +1 more source