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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: couch fj. 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. Among authors: couch fj. JAMA Oncol. 2024 Apr 1;10(4):484-492. doi: 10.1001/jamaoncol.2023.6937. JAMA Oncol. 2024. PMID: 38421677
The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers.
Ko KP, Kim SJ, Huzarski T, Gronwald J, Lubinski J, Lynch HT, Armel S, Park SK, Karlan B, Singer CF, Neuhausen SL, Narod SA, Kotsopoulos J; Hereditary Breast Cancer Clinical Study Group. Ko KP, et al. Int J Cancer. 2018 Jun 1;142(11):2263-2272. doi: 10.1002/ijc.31257. Epub 2018 Jan 25. Int J Cancer. 2018. PMID: 29330845 Free PMC article.
Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers.
Kim SJ, Huzarski T, Gronwald J, Singer CF, Møller P, Lynch HT, Armel S, Karlan BY, Foulkes WD, Neuhausen SL, Senter L, Eisen A, Eng C, Panchal S, Pal T, Olopade O, Zakalik D, Lubinski J, Narod SA, Kotsopoulos J; Hereditary Breast Cancer Clinical Study Group. Kim SJ, et al. Int J Epidemiol. 2018 Jun 1;47(3):987-997. doi: 10.1093/ije/dyy039. Int J Epidemiol. 2018. PMID: 29547931 Free PMC article.
Family history of cancer and cancer risks in women with BRCA1 or BRCA2 mutations.
Metcalfe K, Lubinski J, Lynch HT, Ghadirian P, Foulkes WD, Kim-Sing C, Neuhausen S, Tung N, Rosen B, Gronwald J, Ainsworth P, Sweet K, Eisen A, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group. Metcalfe K, et al. J Natl Cancer Inst. 2010 Dec 15;102(24):1874-8. doi: 10.1093/jnci/djq443. Epub 2010 Nov 23. J Natl Cancer Inst. 2010. PMID: 21098759
Does the age of breast cancer diagnosis in first-degree relatives impact on the risk of breast cancer in BRCA1 and BRCA2 mutation carriers?
Semple J, Metcalfe KA, Lubinski J, Huzarski T, Gronwald J, Armel S, Lynch HT, Karlan B, Foulkes W, Singer CF, Neuhausen SL, Eng C, Iqbal J, Narod SA; Hereditary Breast Cancer Clinical Study Group. Semple J, et al. Breast Cancer Res Treat. 2015 Nov;154(1):163-9. doi: 10.1007/s10549-015-3596-8. Breast Cancer Res Treat. 2015. PMID: 26467043
Frequency of premature menopause in women who carry a BRCA1 or BRCA2 mutation.
Finch A, Valentini A, Greenblatt E, Lynch HT, Ghadirian P, Armel S, Neuhausen SL, Kim-Sing C, Tung N, Karlan B, Foulkes WD, Sun P, Narod S; Hereditary Breast Cancer Study Group. Finch A, et al. Fertil Steril. 2013 May;99(6):1724-8. doi: 10.1016/j.fertnstert.2013.01.109. Epub 2013 Feb 13. Fertil Steril. 2013. PMID: 23414920 Free article.
The incidence of endometrial cancer in women with BRCA1 and BRCA2 mutations: an international prospective cohort study.
Segev Y, Iqbal J, Lubinski J, Gronwald J, Lynch HT, Moller P, Ghadirian P, Rosen B, Tung N, Kim-Sing C, Foulkes WD, Neuhausen SL, Senter L, Singer CF, Karlan B, Ping S, Narod SA; Hereditary Breast Cancer Study Group. Segev Y, et al. Gynecol Oncol. 2013 Jul;130(1):127-31. doi: 10.1016/j.ygyno.2013.03.027. Epub 2013 Apr 3. Gynecol Oncol. 2013. PMID: 23562522
Assessment of functional effects of unclassified genetic variants.
Couch FJ, Rasmussen LJ, Hofstra R, Monteiro AN, Greenblatt MS, de Wind N; IARC Unclassified Genetic Variants Working Group. Couch FJ, et al. Hum Mutat. 2008 Nov;29(11):1314-26. doi: 10.1002/humu.20899. Hum Mutat. 2008. PMID: 18951449 Free PMC article.
560 results