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Genetics of gastric cancer: what do we know about the genetic risks?.

Translational gastroenterology and hepatology

Slavin TP, Weitzel JN, Neuhausen SL, Schrader KA, Oliveira C, Karam R.
PMID: 31463414
Transl Gastroenterol Hepatol. 2019 Jul 29;4:55. doi: 10.21037/tgh.2019.07.02. eCollection 2019.

An appreciable number of patients with gastric cancer have an underlying hereditary cancer susceptibility syndrome as the cause of their gastric cancer, particularly those with early onset gastric cancer or a family history of gastric or other cancers. Pathogenic...

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Slavin TP, Weitzel JN, Neuhausen SL, et al. Genetics of gastric cancer: what do we know about the genetic risks?. Transl Gastroenterol Hepatol. 2019;4:55doi: 10.21037/tgh.2019.07.02.
Slavin, T. P., Weitzel, J. N., Neuhausen, S. L., Schrader, K. A., Oliveira, C., & Karam, R. (2019). Genetics of gastric cancer: what do we know about the genetic risks?. Translational gastroenterology and hepatology, 455. https://doi.org/10.21037/tgh.2019.07.02
Slavin, Thomas Paul, et al. "Genetics of gastric cancer: what do we know about the genetic risks?." Translational gastroenterology and hepatology vol. 4 (2019): 55. doi: https://doi.org/10.21037/tgh.2019.07.02
Slavin TP, Weitzel JN, Neuhausen SL, Schrader KA, Oliveira C, Karam R. Genetics of gastric cancer: what do we know about the genetic risks?. Transl Gastroenterol Hepatol. 2019 Jul 29;4:55. doi: 10.21037/tgh.2019.07.02. eCollection 2019. PMID: 31463414; PMCID: PMC6691077.
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The effects of genomic germline variant reclassification on clinical cancer care.

Oncotarget

Slavin TP, Manjarrez S, Pritchard CC, Gray S, Weitzel JN.
PMID: 30728895
Oncotarget. 2019 Jan 11;10(4):417-423. doi: 10.18632/oncotarget.26501. eCollection 2019 Jan 11.

The last two decades have provided an astounding amount of novel information about the human genome. Translating germline genomic data into clinically actionable findings is reliant on the annotation and laboratory classification of specific variants. Variant classification helps providers...

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Slavin TP, Manjarrez S, Pritchard CC, et al. The effects of genomic germline variant reclassification on clinical cancer care. Oncotarget. 2019;10(4):417-423doi: 10.18632/oncotarget.26501.
Slavin, T. P., Manjarrez, S., Pritchard, C. C., Gray, S., & Weitzel, J. N. (2019). The effects of genomic germline variant reclassification on clinical cancer care. Oncotarget, 10(4), 417-423. https://doi.org/10.18632/oncotarget.26501
Slavin, Thomas P, et al. "The effects of genomic germline variant reclassification on clinical cancer care." Oncotarget vol. 10,4 (2019): 417-423. doi: https://doi.org/10.18632/oncotarget.26501
Slavin TP, Manjarrez S, Pritchard CC, Gray S, Weitzel JN. The effects of genomic germline variant reclassification on clinical cancer care. Oncotarget. 2019 Jan 11;10(4):417-423. doi: 10.18632/oncotarget.26501. eCollection 2019 Jan 11. PMID: 30728895; PMCID: PMC6355179.
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Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Neurology. Genetics

Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW.
PMID: 31192300
Neurol Genet. 2019 Apr 18;5(2):e565. doi: 10.1212/NXG.0000000000000316. eCollection 2019 Apr.

OBJECTIVE: To expand the clinical spectrum of lysyl-tRNA synthetase (METHODS: Whole-exome sequencing was performed on index patients from 4 unrelated families with leukoencephalopathy. Candidate pathogenic variants and their cosegregation were confirmed by Sanger sequencing. Effects of mutations on KARS...

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Sun C, Song J, Jiang Y, et al. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019;5(2):e565doi: 10.1212/NXG.0000000000000316.
Sun, C., Song, J., Jiang, Y., Zhao, C., Lu, J., Li, Y., Wang, Y., Gao, M., Xi, J., Luo, S., Li, M., Donaldson, K., Oprescu, S. N., Slavin, T. P., Lee, S., Magoulas, P. L., Lewis, A. M., Emrick, L., Lalani, S. R., Niu, Z., Landsverk, M. L., Walkiewicz, M., Person, R. E., Mei, H., Rosenfeld, J. A., Yang, Y., Antonellis, A., Hou, Y. M., Lin, J., & Zhang, V. W. (2019). Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurology. Genetics, 5(2), e565. https://doi.org/10.1212/NXG.0000000000000316
Sun, Chong, et al. "Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes." Neurology. Genetics vol. 5,2 (2019): e565. doi: https://doi.org/10.1212/NXG.0000000000000316
Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr 18;5(2):e565. doi: 10.1212/NXG.0000000000000316. eCollection 2019 Apr. PMID: 31192300; PMCID: PMC6515944.
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.

Human mutation

Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA.
PMID: 33300245
Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25.

Germline pathogenic variants in TP53 are associated with Li-Fraumeni syndrome, a cancer predisposition disorder inherited in an autosomal dominant pattern associated with a high risk of malignancy, including early-onset breast cancers, sarcomas, adrenocortical carcinomas, and brain tumors. Intense cancer...

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Fortuno C, Lee K, Olivier M, et al. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat. 2020;42(3):223-236doi: 10.1002/humu.24152.
Fortuno, C., Lee, K., Olivier, M., Pesaran, T., Mai, P. L., de Andrade, K. C., Attardi, L. D., Crowley, S., Evans, D. G., Feng, B. J., Foreman, A. K. M., Frone, M. N., Huether, R., James, P. A., McGoldrick, K., Mester, J., Seifert, B. A., Slavin, T. P., Witkowski, L., Zhang, L., Plon, S. E., Spurdle, A. B., Savage, S. A. (2021). Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Human mutation, 42(3), 223-236. https://doi.org/10.1002/humu.24152
Fortuno, Cristina, et al. "Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants." Human mutation vol. 42,3 (2021): 223-236. doi: https://doi.org/10.1002/humu.24152
Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25. PMID: 33300245; PMCID: PMC8374922.
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.

Human mutation

Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA.
PMID: 33300245
Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25.

Germline pathogenic variants in TP53 are associated with Li-Fraumeni syndrome, a cancer predisposition disorder inherited in an autosomal dominant pattern associated with a high risk of malignancy, including early-onset breast cancers, sarcomas, adrenocortical carcinomas, and brain tumors. Intense cancer...

Cite
Fortuno C, Lee K, Olivier M, et al. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat. 2020;42(3):223-236doi: 10.1002/humu.24152.
Fortuno, C., Lee, K., Olivier, M., Pesaran, T., Mai, P. L., de Andrade, K. C., Attardi, L. D., Crowley, S., Evans, D. G., Feng, B. J., Foreman, A. K. M., Frone, M. N., Huether, R., James, P. A., McGoldrick, K., Mester, J., Seifert, B. A., Slavin, T. P., Witkowski, L., Zhang, L., Plon, S. E., Spurdle, A. B., Savage, S. A. (2021). Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Human mutation, 42(3), 223-236. https://doi.org/10.1002/humu.24152
Fortuno, Cristina, et al. "Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants." Human mutation vol. 42,3 (2021): 223-236. doi: https://doi.org/10.1002/humu.24152
Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25. PMID: 33300245; PMCID: PMC8374922.
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Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology

Slavin TP, Banks KC, Chudova D, Oxnard GR, Odegaard JI, Nagy RJ, Tsang KWK, Neuhausen SL, Gray SW, Cristofanilli M, Rodriguez AA, Bardia A, Leyland-Jones B, Janicek MF, Lilly M, Sonpavde G, Lee CE, Lanman RB, Meric-Bernstam F, Kurzrock R, Weitzel JN.
PMID: 30339520
J Clin Oncol. 2018 Oct 19;JCO1800328. doi: 10.1200/JCO.18.00328. Epub 2018 Oct 19.

PURPOSE: To determine the potential for detection of incidental germline cancer predisposition mutations through cell-free DNA (cfDNA) analyses in patients who underwent solid tumor somatic mutation evaluation.PATIENTS AND METHODS: Data were evaluated from 10,888 unselected patients with advanced (stage...

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Slavin TP, Banks KC, Chudova D, et al. Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing. J Clin Oncol. 2018;JCO1800328doi: 10.1200/JCO.18.00328.
Slavin, T. P., Banks, K. C., Chudova, D., Oxnard, G. R., Odegaard, J. I., Nagy, R. J., Tsang, K. W. K., Neuhausen, S. L., Gray, S. W., Cristofanilli, M., Rodriguez, A. A., Bardia, A., Leyland-Jones, B., Janicek, M. F., Lilly, M., Sonpavde, G., Lee, C. E., Lanman, R. B., Meric-Bernstam, F., Kurzrock, R., & Weitzel, J. N. (2018). Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, JCO1800328. https://doi.org/10.1200/JCO.18.00328
Slavin, Thomas P, et al. "Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing." Journal of clinical oncology : official journal of the American Society of Clinical Oncology vol. (2018): JCO1800328. doi: https://doi.org/10.1200/JCO.18.00328
Slavin TP, Banks KC, Chudova D, Oxnard GR, Odegaard JI, Nagy RJ, Tsang KWK, Neuhausen SL, Gray SW, Cristofanilli M, Rodriguez AA, Bardia A, Leyland-Jones B, Janicek MF, Lilly M, Sonpavde G, Lee CE, Lanman RB, Meric-Bernstam F, Kurzrock R, Weitzel JN. Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing. J Clin Oncol. 2018 Oct 19;JCO1800328. doi: 10.1200/JCO.18.00328. Epub 2018 Oct 19. PMID: 30339520; PMCID: PMC6286162.
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Showing 1 to 6 of 6 entries