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Page 1
Impact of hormone receptor status and tumor subtypes of breast cancer in young BRCA carriers.
Arecco L, Bruzzone M, Bas R, Kim HJ, Di Meglio A, Bernstein-Molho R, Hilbers FS, Pogoda K, Carrasco E, Punie K, Bajpai J, Agostinetto E, Lopetegui-Lia N, Partridge AH, Phillips KA, Toss A, Rousset-Jablonski C, Curigliano G, Renaud T, Ferrari A, Paluch-Shimon S, Fruscio R, Cui W, Wong SM, Vernieri C, Couch FJ, Dieci MV, Matikas A, Rozenblit M, Aguilar-Y Méndez D, De Marchis L, Puglisi F, Fabi A, Graff SL, Witzel I, Rodriguez Hernandez A, Fontana A, Pesce R, Duchnowska R, Pais HL, Sini V, Sokolović E, de Azambuja E, Ceppi M, Blondeaux E, Lambertini M. Arecco L, et al. Among authors: couch fj. Ann Oncol. 2024 Sep;35(9):792-804. doi: 10.1016/j.annonc.2024.06.009. Epub 2024 Jun 20. Ann Oncol. 2024. PMID: 38908482 Free article.
Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment.
Evans DG, Phillips KA, Milne RL, Fruscio R, Cybulski C, Gronwald J, Lubinski J, Huzarski T, Hyder Z, Forde C, Metcalfe K, Senter L, Weitzel J, Tung N, Zakalik D, Ekholm M, Sun P, Narod SA; kConFab Investigators, Polish Hereditary Breast Cancer Consortium, Hereditary Breast Cancer Clinical Study Group. Evans DG, et al. Br J Cancer. 2023 Feb;128(4):703. doi: 10.1038/s41416-022-02130-9. Br J Cancer. 2023. PMID: 36639528 Free PMC article. No abstract available.
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.
Levi H, Carmi S, Rosset S, Yerushalmi R, Zick A, Yablonski-Peretz T; BCAC Consortium; Wang Q, Bolla MK, Dennis J, Michailidou K, Lush M, Ahearn T, Andrulis IL, Anton-Culver H, Antoniou AC, Arndt V, Augustinsson A, Auvinen P, Beane Freeman L, Beckmann M, Behrens S, Bermisheva M, Bodelon C, Bogdanova NV, Bojesen SE, Brenner H, Byers H, Camp N, Castelao J, Chang-Claude J, Chirlaque MD, Chung W, Clarke C; NBCS Collaborators; Collee MJ, Colonna S; CTS Consortium; Couch F, Cox A, Cross SS, Czene K, Daly M, Devilee P, Dork T, Dossus L, Eccles DM, Eliassen AH, Eriksson M, Evans G, Fasching P, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, García-Closas M, Garcia-Saenz JA, Genkinger J, Giles GG, Goldberg M, Guénel P, Hall P, Hamann U, He W, Hillemanns P, Hollestelle A, Hoppe R, Hopper J; ABCTB Investigators; Jakovchevska S, Jakubowska A, Jernström H, John E, Johnson N, Jones M, Vijai J, Kaaks R, Khusnutdinova E, Kitahara C, Koutros S, Kristensen V, Kurian AW, Lacey J, Lambrechts D, Le Marchand L, Lejbkowicz F, Lindblom A, Loibl S, Lori A, Lubinski J, Mannermaa A, Manoochehri M, Mavroudis D, Menon U, Mulligan A, Murphy R, Nevelsteen I, Newman WG, Obi N, O'Brien K, Offit K… See abstract for full author list ➔ Levi H, et al. J Med Genet. 2023 Nov 27;60(12):1186-1197. doi: 10.1136/jmg-2023-109185. J Med Genet. 2023. PMID: 37451831 Free PMC article.
A missense variant effect map for the human tumor-suppressor protein CHK2.
Gebbia M, Zimmerman D, Jiang R, Nguyen M, Weile J, Li R, Gavac M, Kishore N, Sun S, Boonen RA, Hamilton R, Dines JN, Wahl A, Reuter J, Johnson B, Fowler DM, Couch FJ, van Attikum H, Roth FP. Gebbia M, et al. Among authors: couch fj. Am J Hum Genet. 2024 Dec 5;111(12):2675-2692. doi: 10.1016/j.ajhg.2024.10.013. Am J Hum Genet. 2024. PMID: 39642869 Free PMC article.
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA. Spurdle AB, et al. Among authors: couch fj. Hum Mutat. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990146 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: couch fj. 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.
Musician's Experience After Breast Cancer Treatment: Defining Musical Toxicity and its Frequency.
Burlile JF, Cameron JD, Gunn HJ, Larson NL, Bradt JL, Boughey JC, Mrdutt MM, Couch FJ, Olson JE, Cangie V, Ehlers S, Sharifzadeh Y, Ruddy KJ, Shumway DA, Loprinzi CL, Cathcart-Rake EJ. Burlile JF, et al. Among authors: couch fj. JCO Oncol Pract. 2025 Jan 22:OP2400729. doi: 10.1200/OP-24-00729. Online ahead of print. JCO Oncol Pract. 2025. PMID: 39841944
Functional evaluation and clinical classification of BRCA2 variants.
Huang H, Hu C, Na J, Hart SN, Gnanaolivu RD, Abozaid M, Rao T, Tecleab YA; CARRIERS Consortium; Pesaran T, Lyra PCM, Karam R, Yadav S, Nathanson KL, Domchek SM, de la Hoya M, Robson M, Mehine M, Bandlamudi C, Mandelker D, Monteiro ANA, Iversen ES, Boddicker N, Chen W, Richardson ME, Couch FJ. Huang H, et al. Among authors: couch fj. Nature. 2025 Jan 8. doi: 10.1038/s41586-024-08388-8. Online ahead of print. Nature. 2025. PMID: 39779857
Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.
Yiangou K, Mavaddat N, Dennis J, Zanti M, Wang Q, Bolla MK, Abubakar M, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baten A, Behrens S, Bermisheva M, de Gonzalez AB, Białkowska K, Boddicker N, Bodelon C, Bogdanova NV, Bojesen SE, Brantley KD, Brauch H, Brenner H, Camp NJ, Canzian F, Castelao JE, Cessna MH, Chang-Claude J, Chenevix-Trench G, Chung WK; NBCS Collaborators; Colonna SV, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dunning AM, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Fletcher O, Flyger H, Fritschi L, Gago-Dominguez M, Gentry-Maharaj A, González-Neira A, Guénel P, Hahnen E, Haiman CA, Hamann U, Hartikainen JM, Ho V, Hodge J, Hollestelle A, Honisch E, Hooning MJ, Hoppe R, Hopper JL, Howell S, Howell A; ABCTB Investigators; kConFab Investigators; Jakovchevska S, Jakubowska A, Jernström H, Johnson N, Kaaks R, Khusnutdinova EK, Kitahara CM, Koutros S, Kristensen VN, Lacey JV, Lambrechts D, Lejbkowicz F, Lindblom A, Lush M, Mannermaa A, Mavroudis D, Menon U, Murphy RA, Nevanlinna H, Obi N, Offit K, Park-Simon TW, Patel AV, Peng C, Peterlongo P, Pita G, Plaseska-Karanfilska D,… See abstract for full author list ➔ Yiangou K, et al. Among authors: couch fj. Breast Cancer Res. 2024 Dec 29;26(1):189. doi: 10.1186/s13058-024-01947-x. Breast Cancer Res. 2024. PMID: 39734228 Free PMC article.
Author Correction: Genetic drivers and cellular selection of female mosaic X chromosome loss.
Liu A, Genovese G, Zhao Y, Pirinen M, Zekavat SM, Kentistou KA, Yang Z, Yu K, Vlasschaert C, Liu X, Brown DW, Hudjashov G, Gorman BR, Dennis J, Zhou W, Momozawa Y, Pyarajan S, Tuzov V, Pajuste FD, Aavikko M, Sipilä TP, Ghazal A, Huang WY, Freedman ND, Song L, Gardner EJ; FinnGen; Estonian Biobank Research Team; Breast Cancer Association Consortium; Million Veteran Program; Sankaran VG, Palotie A, Ollila HM, Tukiainen T, Chanock SJ, Mägi R, Natarajan P, Daly MJ, Bick A, McCarroll SA, Terao C, Loh PR, Ganna A, Perry JRB, Machiela MJ. Liu A, et al. Nature. 2024 Dec;636(8043):E7. doi: 10.1038/s41586-024-08215-0. Nature. 2024. PMID: 39627447 No abstract available.
590 results