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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. 2024 Apr 25;5(3):100296. doi: 10.1016/j.xhgg.2024.100296. Online ahead of print. HGG Adv. 2024. PMID: 38669137 Free PMC article. No abstract available.
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
The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations.
Narod SA, Metcalfe K, Finch A, Chan AW, Armel SR, Aeilts A, Eisen A, Karlan B, Bordeleau L, Tung N, Foulkes WD, Neuhausen SL, Eng C, Olopade O, Zakalik D, Couch F, Cullinane C, Pal T, Sun P, Kotsopoulos J; Hereditary Breast Cancer Clinical Research Group. Narod SA, et al. Among authors: armel sr. Hered Cancer Clin Pract. 2024 May 13;22(1):7. doi: 10.1186/s13053-024-00277-5. Hered Cancer Clin Pract. 2024. PMID: 38741145 Free PMC article.
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.
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
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.
Theory-based behavior change intervention to increase uptake of risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 pathogenic variant: The PREVENT randomized controlled trial.
Metcalfe KA, Pal T, Narod SA, Armel S, Shickh S, Buckley K, Walters ST, Brennenstuhl S, Kinney AY. Metcalfe KA, et al. Among authors: armel s. Cancer Med. 2023 Sep;12(17):18246-18257. doi: 10.1002/cam4.6417. Epub 2023 Aug 21. Cancer Med. 2023. PMID: 37602539 Free PMC article. Clinical Trial.
"I don't need any more unknowns hanging over my head": Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing.
Shickh S, Mighton C, Clausen M, Kodida R, Adi-Wauran E, Hirjikaka D, Krishnapillai S, Reble E, Sam J, Baxter NN, Laupacis A, Bombard Y; Incidental Genomics Study Team. Shickh S, et al. Genet Med. 2023 Dec;25(12):100960. doi: 10.1016/j.gim.2023.100960. Epub 2023 Aug 11. Genet Med. 2023. PMID: 37577963
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.
78 results