The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group
Open accessAbstract
It is increasingly common in oncology practice to perform tumour sequencing using large cancer panels. For pathogenic sequence variants in cancer susceptibility genes identified on tumour-only sequencing, it is often unclear whether they are of somatic or constitutional (germline) origin. There is wide-spread disparity regarding both the extent to which systematic 'germline-focussed analysis' is carried out upon tumour sequencing data and for which variants follow-up analysis of a germline sample is carried out. Here we present analyses of paired sequencing data from 17 152 cancer samples, in which 1494 pathogenic sequence variants were identified across 65 cancer susceptibility genes. From these analyses, the European Society of Medical Oncology Precision Medicine Working Group Germline Subgroup has generated (i) recommendations regarding germline-focussed analyses of tumour-only sequencing data, (ii) indications for germline follow-up testing and (iii) guidance on patient information-giving and consent.
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ClinVar: public archive of relationships among sequence variation and human phenotype
Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1113 · Cited by 3,516
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“These were summed with the germline-only calls to generate tumour variant frequencies [16, 17].”
MethodSelf-citationFrampton, G. M., Fichtenholtz, A., Otto, G. A., Wang, K., Downing, S. R., He, J., Schnall-Levin, M., White, J., Sanford, E. M., An, P., et al. (2013) · Nature Biotechnology · doi:10.1038/nbt.2696 · Cited by 2,157
Meric-Bernstam, F., Brusco, L., Shaw, K., Horombe, C., Kopetz, S., Davies, M. A., Routbort, M., Piha-Paul, S. A., Janku, F., Ueno, N., et al. (2015) · Journal of Clinical Oncology · doi:10.1200/jco.2014.60.4165 · Cited by 424
Cheng, D. T., Prasad, M., Chekaluk, Y., Benayed, R., Sadowska, J., Zehir, A., Syed, A., Wang, Y. E., Somar, J., Li, Y., et al. (2017) · BMC Medical Genomics · doi:10.1186/s12920-017-0271-4 · Cited by 158
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Cited by
Prostate cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up
Parker, C., Castro, E., Fizazi, K., Heidenreich, A., Ost, P., Procopio, G., Tombal, B., & Gillessen, S. (2020) · Annals of Oncology · doi:10.1016/j.annonc.2020.06.011 · Cited by 977
Molecular profiling for precision cancer therapies
Malone, E. R., Oliva, M., Sabatini, P. J. B., Stockley, T. L., & Siu, L. L. (2020) · Genome Medicine · doi:10.1186/s13073-019-0703-1 · Cited by 913
Pascual, J., Attard, G., Bidard, F.-C., Curigliano, G., De Mattos-Arruda, L., Diehn, M., Italiano, A., Lindberg, J., Merker, J. D., Montagut, C., et al. (2022) · Annals of Oncology · doi:10.1016/j.annonc.2022.05.520 · Cited by 783
Network approach in liquidomics landscape
Santini, D., Botticelli, A., Galvano, A., Iuliani, M., Incorvaia, L., Gristina, V., Taffon, C., Foderaro, S., Paccagnella, E., Simonetti, S., et al. (2023) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/s13046-023-02743-9 · Cited by 37
Metadata
- Authors
- Mandelker, D., Donoghue, M., Talukdar, S., Bandlamudi, C., Srinivasan, P., Vivek, M., Jezdic, S., Hanson, H., Snape, K., Kulkarni, A., Hawkes, L., Douillard, J.-Y., Wallace, S. E., Rial-Sebbag, E., Meric-Bersntam, F., George, A., Chubb, D., Loveday, C., Ladanyi, M., Berger, M. F., Taylor, B. S., & Turnbull, C.
- Venue
- Annals of Oncology
- Publisher
- Elsevier BV
- Published
- 2019-08
- Volume
- 30
- Issue
- 8
- Pages
- 1221-1231
- ISSN
- 0923-7534 (ISSN-L)
- OpenAlex
- W2943421228
- Cited by
- 238
- References
- 5
- FWCI
- 12.87
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- The paper
- Mandelker, D., Donoghue, M., Talukdar, S., Bandlamudi, C., Srinivasan, P., Vivek, M., Jezdic, S., Hanson, H., Snape, K., Kulkarni, A., Hawkes, L., Douillard, J.-Y., Wallace, S. E., Rial-Sebbag, E., Meric-Bersntam, F., George, A., Chubb, D., Loveday, C., Ladanyi, M., . . . Turnbull, C. (2019). Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group. Annals of Oncology. https://doi.org/10.1093/annonc/mdz136
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
