CGE_2024v12n5

Cancer Genetics and Epigenetics 2024, Vol.12, No.5, 279-293 http://medscipublisher.com/index.php/cge 291 Mavaddat N., Michailidou K., Dennis J., Lush M., Fachal L., Lee A., Tyrer J., Chen T., Wang Q., Bolla M., Yang X., Adank M., Ahearn T., Aittomaki K., Allen J., Andrulis I., Anton-Culver H., Antonenkova N., Arndt V., Aronson K., Auer P., Auvinen P., Barrdahl M., Freeman L., Beckmann M., Behrens S., Benítez J., Bermisheva M., Bernstein L., Blomqvist C., Bogdanova N., Bojesen S., Bonanni B., Børresen-Dale A., Brauch H., Bremer M., Brenner H., Brentnall A., Brock I., Brooks-Wilson A., Brucker S., Brüning T., Burwinkel B., Campa D., Carter B., Castelao J., Chanock S., Chlebowski R., Christiansen H., Clarke C., Collée J., Cordina-Duverger E., Cornelissen S., Couch F., Cox A., Cross S., Czene K., Daly M., Devilee P., Dörk T., dos-Santos-Silva I., Dumont M., Durcan L., Dwek M., Eccles D., Ekici A., Eliassen A., Ellberg C., Engel C., Eriksson M., Evans D., Fasching P., Figueroa J., Fletcher 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Truong T., Tzardi M., Ulmer H., Untch M., Vachon C., Veen E., Vijai J., Weinberg C., Wendt C., Whittemore A., Wildiers H., Willett W., Winqvist R., Wolk A., Yang X., Yannoukakos D., Zhang Y., Zheng W., Ziogas A., Dunning A., Thompson D., Chenevix-Trench G., Chang-Claude J., Schmidt M., Hall P., Milne R., Pharoah P., Antoniou A., Chatterjee N., Kraft P., García-Closas M., Simard J., and Easton D., 2018, Polygenic risk scores for prediction of breast cancer and breast cancer subtypes, American Journal of Human Genetics, 104(1): 21-34. https://doi.org/10.1016/j.ajhg.2018.11.002 PMID: 30554720 PMCID: PMC6323553 Nelson H., Huffman, L., Fu, R., and Harris, E., 2005, Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the U.S. preventive services task force, Annals of Internal Medicine, 143: 362-379. https://doi.org/10.7326/0003-4819-143-5-200509060-00012 Nones K., Johnson J., Newell F., Patch A., Thorne H., Kazakoff S., Luca X., Parsons M., Ferguson K., Reid L., Reed A., Srihari S., Lakis V., Davidson A., Mukhopadhyay P., Holmes O., Xu Q., Wood S., Leonard C., Beesley J., Harris J., Barnes D., Degasperi A., Ragan M., Spurdle A., Khanna K., Lakhani S., Pearson J., Nik-Zainal S., Chenevix-Trench G., Waddell N., and Simpson P., 2019, Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers, Annals of oncology : official journal of the European Society for Medical Oncology, 30(7): 1071-1079. https://doi.org/10.1093/annonc/mdz132 Nunziato M., Esposito M., Starnone F., Diroma M., Calabrese A., Monaco V., Buono P., Frasci G., Botti G., D'aiuto M., Salvatore F., and D’Argenio V., 2019, A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study, Analytica chimica acta, 1046: 154-162. https://doi.org/10.1016/j.aca.2018.09.032 Openshaw M., Page K., Fernandez-Garcia D., Guttery D., and Shaw J., 2016, The role of ctDNA detection and the potential of the liquid biopsy for breast cancer monitoring, Expert Review of Molecular Diagnostics, 16: 751-755. https://doi.org/10.1080/14737159.2016.1184974 Pashayan N., Antoniou A., Ivanuš U., Esserman L., Easton D., French D., Sroczynski G., Hall P., Cuzick J., Evans D., Simard J., García-Closas M., Schmutzler R., Wegwarth O., Pharoah P., Moorthie S., Montgolfier S., Baron C., Herceg Z., Turnbull C., Balleyguier C., Rossi P., Wesseling J., Ritchie D., Tischkowitz M., Broeders M., Reisel D., Metspalu A., Callender T., Koning H., Devilee P., Delaloge S., Schmidt M., and Widschwendter M., 2020, Personalized early detection and prevention of breast cancer: ENVISION consensus statement, Nature Reviews Clinical Oncology, 17: 687-705. https://doi.org/10.1038/s41571-020-0388-9 Phallen J., Sausen M., Adleff V., Leal A., Hruban C., White J., Anagnostou V., Fiksel J., Cristiano S., Papp E., Speir S., Reinert T., Orntoft M., Woodward B., Murphy D., Parpart-Li S., Riley D., Nesselbush M., Sengamalay N., Georgiadis A., Li Q., Madsen M., Mortensen F., Huiskens J., Punt C., Grieken N., Fijneman R., Meijer G., Husain H., Scharpf R., Diaz L., Jones S., Angiuoli S., Ørntoft T., Nielsen H., Andersen C., and Velculescu V., 2017, Direct detection of early-stage cancers using circulating tumor DNA, Science Translational Medicine, 9(403):eaan2415. https://doi.org/10.1126/scitranslmed.aan2415 Rudolph A., Song M., Brook M., Milne R., Mavaddat N., Michailidou K., Bolla M.K., Wang Q., Dennis J., Wilcox A., Hopper J., Southey M., Keeman R., Fasching P., Beckmann M., Gago-Domínguez M., Castelao J., Guénel P., Truong T., Bojesen S., Flyger H., Brenner H., Arndt V., Brauch H., Brüning T., Mannermaa A., Kosma V., Lambrechts D., Keupers M., Couch F., Vachon C., Giles G., MacInnis R., Figueroa J., Brinton L., Czene K., Brand J., Gabrielson M., Humphreys K., Cox A., Cross S., Dunning A., Orr N., 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