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Year Number of Results
2007 1
2008 3
2009 5
2010 7
2011 4
2012 2
2013 3
2014 4
2015 5
2016 4
2017 2
2018 5
2019 6
2020 4
2021 9
2022 4
2023 7
2024 4

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66 results

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Page 1
A model for the return and referral of all clinically significant secondary findings of genomic sequencing.
Kodida R, Reble E, Clausen M, Shickh S, Mighton C, Sam J, Forster N, Panchal S, Aronson M, Semotiuk K, Graham T, Silberman Y, Randall Armel S, McCuaig JM, Cohn I, Morel CF, Elser C, Eisen A, Carroll JC, Glogowski E, Schrader KA, Di Gioacchino V, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Kodida R, et al. J Med Genet. 2023 Aug;60(8):733-739. doi: 10.1136/jmg-2022-109091. Epub 2023 May 22. J Med Genet. 2023. PMID: 37217257 Review.
Bilateral Oophorectomy and All-Cause Mortality in Women With BRCA1 and BRCA2 Sequence Variations.
Kotsopoulos J, Gronwald J, Huzarski T, Møller P, Pal T, McCuaig JM, Singer CF, Karlan BY, Aeilts A, Eng C, Eisen A, Bordeleau L, Foulkes WD, Tung N, Couch FJ, Fruscio R, Neuhausen SL, Zakalik D, Cybulski C, Metcalfe K, Olopade OI, Sun P, Lubinski J, Narod SA; Hereditary Breast Cancer Clinical Study Group. Kotsopoulos J, et al. JAMA Oncol. 2024 Apr 1;10(4):484-492. doi: 10.1001/jamaoncol.2023.6937. JAMA Oncol. 2024. PMID: 38421677
Great expectations: patients' preferences for clinically significant results from genomic sequencing.
Shickh S, Sebastian A, Clausen M, Mighton C, Elser C, Eisen A, Waldman L, Panchal S, Ward T, Carroll JC, Glogowski E, Schrader KA, Lerner-Ellis J, Kim RH, Thorpe KE, Bombard Y; Incidental Genomics Team members to be indexed in PubMed. Shickh S, et al. Hum Genet. 2023 Apr;142(4):553-562. doi: 10.1007/s00439-023-02543-3. Epub 2023 Mar 21. Hum Genet. 2023. PMID: 36943453
Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis.
Metcalfe K, Huzarski T, Gronwald J, Kotsopoulos J, Kim R, Moller P, Pal T, Aeilts A, Eisen A, Karlan B, Bordeleau L, Tung N, Olopade O, Zakalik D, Singer CF, Foulkes W, Couch F, Neuhausen SL, Eng C, Sun P, Lubinski J, Narod SA; Hereditary Breast Cancer Clinical Study Group. Metcalfe K, et al. Br J Cancer. 2024 Feb;130(2):269-274. doi: 10.1038/s41416-023-02503-8. Epub 2023 Nov 29. Br J Cancer. 2024. PMID: 38030749
MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations.
Lubinski J, Kotsopoulos J, Moller P, Pal T, Eisen A, Peck L, Karlan BY, Aeilts A, Eng C, Bordeleau L, Foulkes WD, Tung N, Couch FJ, Fruscio R, Ramon Y Cajal T, Singer CF, Neuhausen SL, Zakalik D, Cybulski C, Gronwald J, Huzarski T, Stempa K, Dungan J, Cullinane C, Olopade OI, Metcalfe K, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group. Lubinski J, et al. JAMA Oncol. 2024 Apr 1;10(4):493-499. doi: 10.1001/jamaoncol.2023.6944. JAMA Oncol. 2024. PMID: 38421676 Free PMC article.
Incidental findings from cancer next generation sequencing panels.
Maani N, Panabaker K, McCuaig JM, Buckley K, Semotiuk K, Farncombe KM, Ainsworth P, Panchal S, Sadikovic B, Armel SR, Lin H, Kim RH. Maani N, et al. Among authors: armel sr. NPJ Genom Med. 2021 Jul 19;6(1):63. doi: 10.1038/s41525-021-00224-6. NPJ Genom Med. 2021. PMID: 34282142 Free PMC article.
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC, Foo TK, Richardson ME, Ranola JMO, Weyandt J, Varga MJ, Alarcon A, Gutierrez D, von Wachenfeldt A, Eriksson D, Kim R, Armel S, Iversen E, Couch FJ, Borg Å, Xia B, Carvalho MA, Monteiro ANA. Nepomuceno TC, et al. Among authors: armel s. HGG Adv. 2023 Oct 12;4(4):100240. doi: 10.1016/j.xhgg.2023.100240. Epub 2023 Sep 16. HGG Adv. 2023. PMID: 37718511 Free PMC article.
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.
Sam J, Reble E, Kodida R, Shaw A, Clausen M, Salazar MG, Shickh S, Mighton C, Carroll JC, Armel SR, Aronson M, Capo-Chichi JM, Cohn I, Eisen A, Elser C, Graham T, Ott K, Panchal S, Piccinin C, Schrader KA, Kim RH, Lerner-Ellis J, Bombard Y; Incidental Genomics Study Team. Sam J, et al. Among authors: armel sr. Hum Genet. 2022 Dec;141(12):1875-1885. doi: 10.1007/s00439-022-02466-5. Epub 2022 Jun 23. Hum Genet. 2022. PMID: 35739291
66 results