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Page 1
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V, Light N, Kanwar N, Brzezinski J, Luo P, Hansford JR, Cairney E, Portwine C, Elser C, Finlay JL, Nichols KE, Alon N, Brunga L, Anson J, Kohlmann W, de Andrade KC, Khincha PP, Savage SA, Schiffman JD, Weksberg R, Pugh TJ, Villani A, Shlien A, Goldenberg A, Malkin D. Subasri V, et al. Among authors: elser c. Cancer Res Commun. 2023 May 1;3(5):738-754. doi: 10.1158/2767-9764.CRC-22-0402. eCollection 2023 May. Cancer Res Commun. 2023. PMID: 37377903 Free PMC article.
Quality of life drives patients' preferences for secondary findings from genomic sequencing.
Mighton C, Carlsson L, Clausen M, Casalino S, Shickh S, McCuaig L, Joshi E, Panchal S, Semotiuk K, Ott K, Elser C, Eisen A, Kim RH, Lerner-Ellis J, Carroll JC, Glogowski E, Schrader K, Bombard Y; Incidental Genomics Study Team. Mighton C, et al. Among authors: elser c. Eur J Hum Genet. 2020 Sep;28(9):1178-1186. doi: 10.1038/s41431-020-0640-x. Epub 2020 May 18. Eur J Hum Genet. 2020. PMID: 32424322 Free PMC article.
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. 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.
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
"I just wanted more": Hereditary cancer syndromes patients' perspectives on the utility of circulating tumour DNA testing for cancer screening.
Adi-Wauran E, Clausen M, Shickh S, Gagliardi AR, Denburg A, Oldfield LE, Sam J, Reble E, Krishnapillai S, Regier DA, Baxter NN, Dawson L, Penney LS, Foulkes W, Basik M, Sun S, Schrader KA, Karsan A, Pollett A, Pugh TJ; CHARM consortium; Kim RH, Bombard Y. Adi-Wauran E, et al. Eur J Hum Genet. 2024 Feb;32(2):176-181. doi: 10.1038/s41431-023-01473-y. Epub 2023 Oct 11. Eur J Hum Genet. 2024. PMID: 37821757
Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy.
Farncombe KM, Wong D, Norman ML, Oldfield LE, Sobotka JA, Basik M, Bombard Y, Carile V, Dawson L, Foulkes WD, Malkin D, Karsan A, Parkin P, Penney LS, Pollett A, Schrader KA, Pugh TJ, Kim RH; CHARM consortium. Farncombe KM, et al. Am J Hum Genet. 2023 Oct 5;110(10):1616-1627. doi: 10.1016/j.ajhg.2023.08.014. Am J Hum Genet. 2023. PMID: 37802042 Free PMC article. Review.
"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
Tamoxifen and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation.
Kotsopoulos J, Gronwald J, Huzarski T, Aeilts A, Randall Armel S, Karlan B, Singer CF, Eisen A, Tung N, Olopade O, Bordeleau L, Eng C, Foulkes WD, Neuhausen SL, Cullinane CA, Pal T, Fruscio R, Lubinski J, Metcalfe K, Sun P, Narod SA; and the Hereditary Breast Cancer Clinical Study Group. Kotsopoulos J, et al. Breast Cancer Res Treat. 2023 Sep;201(2):257-264. doi: 10.1007/s10549-023-06991-3. Epub 2023 Jul 11. Breast Cancer Res Treat. 2023. PMID: 37432545
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. Among authors: elser c. 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.
Interrupting Endocrine Therapy to Attempt Pregnancy after Breast Cancer.
Partridge AH, Niman SM, Ruggeri M, Peccatori FA, Azim HA Jr, Colleoni M, Saura C, Shimizu C, Sætersdal AB, Kroep JR, Mailliez A, Warner E, Borges VF, Amant F, Gombos A, Kataoka A, Rousset-Jablonski C, Borstnar S, Takei J, Lee JE, Walshe JM, Ruíz-Borrego M, Moore HCF, Saunders C, Bjelic-Radisic V, Susnjar S, Cardoso F, Smith KL, Ferreiro T, Ribi K, Ruddy K, Kammler R, El-Abed S, Viale G, Piccart M, Korde LA, Goldhirsch A, Gelber RD, Pagani O; International Breast Cancer Study Group; POSITIVE Trial Collaborators. Partridge AH, et al. N Engl J Med. 2023 May 4;388(18):1645-1656. doi: 10.1056/NEJMoa2212856. N Engl J Med. 2023. PMID: 37133584 Free PMC article. Clinical Trial.
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