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Page 1
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.
Zanti M, O'Mahony DG, Parsons MT, Li H, Dennis J, Aittomäkkiki K, Andrulis IL, Anton-Culver H, Aronson KJ, Augustinsson A, Becher H, Bojesen SE, Bolla MK, Brenner H, Brown MA, Buys SS, Canzian F, Caputo SM, Castelao JE, Chang-Claude J; GC-HBOC study Collaborators; Czene K, Daly MB, De Nicolo A, Devilee P, Dörk T, Dunning AM, Dwek M, Eccles DM, Engel C, Evans DG, Fasching PA, Gago-Dominguez M, García-Closas M, García-Sáenz JA, Gentry-Maharaj A, Geurts-Giele WRR, Giles GG, Glendon G, Goldberg MS, Garcia EBG, Güendert M, Guénel P, Hahnen E, Haiman CA, Hall P, Hamann U, Harkness EF, Hogervorst FBL, Hollestelle A, Hoppe R, Hopper JL, Houdayer C, Houlston RS, Howell A; ABCTB Investigators; Jakimovska M, Jakubowska A, Jernström H, John EM, Kaaks R, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Lacey JV, Lambrechts D, Léoné M, Lindblom A, Lubiński J, Lush M, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Menon U, Milne RL, Monteiro AN, Murphy RA, Neuhausen SL, Nevanlinna H, Newman WG, Offit K, Park SK, James P, Peterlongo P, Peto J, Plaseska-Karanfilska D, Punie K, Radice P, Rashid MU, Rennert G, Romero A, Rosenberg EH, Saloustros E, Sandler DP, Schmidt MK, Sch… See abstract for full author list ➔ Zanti M, et al. Among authors: fasching pa. Hum Mutat. 2023;2023:9961341. doi: 10.1155/2023/9961341. Epub 2023 Sep 14. Hum Mutat. 2023. PMID: 38725546 Free PMC article.
Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci.
Coetzee SG, Shen HC, Hazelett DJ, Lawrenson K, Kuchenbaecker K, Tyrer J, Rhie SK, Levanon K, Karst A, Drapkin R, Ramus SJ; Ovarian Cancer Association Consortium, The Consortium of Investigators of Modifiers of BRCA1/2; Couch FJ, Offit K, Chenevix-Trench G, Monteiro AN, Antoniou A, Freedman M, Coetzee GA, Pharoah PD, Noushmehr H, Gayther SA; Ovarian Cancer Association Consortium The Consortium of Investigators of Modifiers of BRCA1/2. Coetzee SG, et al. Hum Mol Genet. 2015 Jul 1;24(13):3595-607. doi: 10.1093/hmg/ddv101. Epub 2015 Mar 24. Hum Mol Genet. 2015. PMID: 25804953 Free PMC article.
Differences in polygenic score distributions in 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: fasching pa. medRxiv [Preprint]. 2024 Feb 13:2024.02.12.24302043. doi: 10.1101/2024.02.12.24302043. medRxiv. 2024. PMID: 38410445 Free PMC article. Preprint.
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification.
Zanti M, O'Mahony DG, Parsons MT, Dorling L, Dennis J, Boddicker NJ, Chen W, Hu C, Naven M, Yiangou K, Ahearn TU, Ambrosone CB, Andrulis IL, Antoniou AC, Auer PL, Baynes C, Bodelon C, Bogdanova NV, Bojesen SE, Bolla MK, Brantley KD, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chang-Claude J, Chen F, Chenevix-Trench G; NBCS Collaborators; Conroy DM, Czene K, De Nicolo A, Domchek SM, Dörk T, Dunning AM, Eliassen AH, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gago-Dominguez M, García-Closas M, Glendon G, González-Neira A, Grassmann F, Hadjisavvas A, Haiman CA, Hamann U, Hart SN, Hartman MBA, Ho WK, Hodge JM, Hoppe R, Howell SJ; kConFab Investigators; Jakubowska A, Khusnutdinova EK, Ko YD, Kraft P, Kristensen VN, Lacey JV, Li J, Lim GH, Lindström S, Lophatananon A, Luccarini C, Mannermaa A, Martinez ME, Mavroudis D, Milne RL, Muir K, Nathanson KL, Nuñez-Torres R, Obi N, Olson JE, Palmer JR, Panayiotidis MI, Patel AV, Pharoah PDP, Polley EC, Rashid MU, Ruddy KJ, Saloustros E, Sawyer EJ, Schmidt MK, Southey MC, Tan VK, Teo SH, Teras LR, Torres D, Trentham-Dietz A, Truong T, Vachon CM, Wang Q, Weitzel JN, Yadav S, Yao S, Zirpoli GR, Cline MS, Devilee P, Tavtigian SV, Goldgar D… See abstract for full author list ➔ Zanti M, et al. Among authors: fasching pa. medRxiv [Preprint]. 2024 Sep 4:2024.09.04.24313051. doi: 10.1101/2024.09.04.24313051. medRxiv. 2024. PMID: 39281752 Free PMC article. Preprint.
Genome-wide significant risk associations for mucinous ovarian carcinoma.
Kelemen LE, Lawrenson K, Tyrer J, Li Q, Lee JM, Seo JH, Phelan CM, Beesley J, Chen X, Spindler TJ, Aben KK, Anton-Culver H, Antonenkova N; Australian Cancer Study; Australian Ovarian Cancer Study Group; Ovarian Cancer Association Consortium. Kelemen LE, et al. Nat Genet. 2015 Aug;47(8):888-97. doi: 10.1038/ng.3336. Epub 2015 Jun 15. Nat Genet. 2015. PMID: 26075790 Free PMC article.
Shared genetic susceptibility of vascular-related biomarkers with ischemic and recurrent stroke.
Williams SR, Hsu FC, Keene KL, Chen WM, Nelson S, Southerland AM, Madden EB, Coull B, Gogarten SM, Furie KL, Dzhivhuho G, Rowles JL, Mehndiratta P, Malik R, Dupuis J, Lin H, Seshadri S, Rich SS, Sale MM, Worrall BB; METASTROKE, The Genomics and Randomized Trials Network (GARNET) Collaborative Research Group; METASTROKE The Genomics and Randomized Trials Network GARNET Collaborative Research Group. Williams SR, et al. Neurology. 2016 Jan 26;86(4):351-9. doi: 10.1212/WNL.0000000000002319. Epub 2015 Dec 30. Neurology. 2016. PMID: 26718567 Free PMC article.
Physical activity levels are positively related to progression-free survival and reduced adverse events in advanced ER+ breast cancer.
Zimmer P, Esser T, Lueftner D, Schuetz F, Baumann FT, Rody A, Schneeweiss A, Hartkopf AD, Decker T, Uleer C, Stoetzer OJ, Foerster F, Schmidt M, Mundhenke C, Steindorf K, Tesch H, Jackisch C, Fischer T, Hanson S, Kreuzeder J, Guderian G, Fasching PA, Bloch W. Zimmer P, et al. Among authors: fasching pa. BMC Med. 2024 Oct 8;22(1):442. doi: 10.1186/s12916-024-03671-x. BMC Med. 2024. PMID: 39379960 Free PMC article.
A preoperative window-of-opportunity study of oral SERD, imlunestrant, in newly diagnosed ER-positive, HER2-negative early breast cancer: Results from EMBER-2 Study.
Neven P, Stahl N, Vidal M, Martín M, Kaufman PA, Harbeck N, Hunt KK, Carter S, Bidard FC, Fasching PA, Aftimos P, Wheatley D, Hamilton E, Aft R, Kulkarni S, Schmid P, Bhave M, Ismail-Khan R, Karacsonyi C, Estrem ST, Nguyen B, Ozbek U, Yuen E, Rodrik-Outmezguine V, Ciruelos E. Neven P, et al. Among authors: fasching pa. Clin Cancer Res. 2024 Oct 8. doi: 10.1158/1078-0432.CCR-24-2113. Online ahead of print. Clin Cancer Res. 2024. PMID: 39377773
On-treatment biopsies to predict response to neoadjuvant chemotherapy for breast cancer.
Sinn BV, Sychra K, Untch M, Karn T, van Mackelenbergh M, Huober J, Schmitt W, Marmé F, Schem C, Solbach C, Stickeler E, Tesch H, Fasching PA, Schneeweiss A, Müller V, Holtschmidt J, Nekljudova V, Loibl S, Denkert C. Sinn BV, et al. Among authors: fasching pa. Breast Cancer Res. 2024 Sep 24;26(1):138. doi: 10.1186/s13058-024-01883-w. Breast Cancer Res. 2024. PMID: 39317942 Free PMC article. Clinical Trial.
Overall Survival with Pembrolizumab in Early-Stage Triple-Negative Breast Cancer.
Schmid P, Cortes J, Dent R, McArthur H, Pusztai L, Kümmel S, Denkert C, Park YH, Hui R, Harbeck N, Takahashi M, Im SA, Untch M, Fasching PA, Mouret-Reynier MA, Foukakis T, Ferreira M, Cardoso F, Zhou X, Karantza V, Tryfonidis K, Aktan G, O'Shaughnessy J; KEYNOTE-522 Investigators. Schmid P, et al. Among authors: fasching pa. N Engl J Med. 2024 Sep 15. doi: 10.1056/NEJMoa2409932. Online ahead of print. N Engl J Med. 2024. PMID: 39282906
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