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Page 1
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators; Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Me… See abstract for full author list ➔ Hakkaart C, et al. Among authors: frone m. Commun Biol. 2022 Oct 6;5(1):1061. doi: 10.1038/s42003-022-03978-6. Commun Biol. 2022. PMID: 36203093 Free PMC article.
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Kim J, Luo W, Wang M, Wegman-Ostrosky T, Frone MN, Johnston JJ, Nickerson ML, Rotunno M, Li SA, Achatz MI, Brodie SA, Dean M, de Andrade KC, Fortes FP, Gianferante M, Khincha P, McMaster ML, McReynolds LJ, Pemov A, Pinheiro M, Santiago KM, Alter BP, Caporaso NE, Gadalla SM, Goldin LR, Greene MH, Loud J, Yang XR, Freedman ND, Gapstur SM, Gaudet MM, Calista D, Ghiorzo P, Fargnoli MC, Nagore E, Peris K, Puig S, Landi MT, Hicks B, Zhu B, Liu J, Sampson JN, Chanock SJ, Mirabello LJ, Morton LM, Biesecker LG, Tucker MA, Savage SA, Goldstein AM, Stewart DR. Kim J, et al. Among authors: frone mn. Genome Med. 2018 Dec 24;10(1):99. doi: 10.1186/s13073-018-0607-5. Genome Med. 2018. PMID: 30583724 Free PMC article.
Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts.
Shin SJ, Dodd-Eaton EB, Peng G, Bojadzieva J, Chen J, Amos CI, Frone MN, Khincha PP, Mai PL, Savage SA, Ballinger ML, Thomas DM, Yuan Y, Strong LC, Wang W. Shin SJ, et al. Among authors: frone mn. Cancer Res. 2020 Jan 15;80(2):354-360. doi: 10.1158/0008-5472.CAN-19-0728. Epub 2019 Nov 12. Cancer Res. 2020. PMID: 31719101 Free PMC article.
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA; ClinGen TP53 Variant Curation Expert Panel. Fortuno C, et al. Among authors: frone mn. Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25. Hum Mutat. 2021. PMID: 33300245 Free PMC article.
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
Kim J, Gianferante M, Karyadi DM, Hartley SW, Frone MN, Luo W, Robison LL, Armstrong GT, Bhatia S, Dean M, Yeager M, Zhu B, Song L, Sampson JN, Yasui Y, Leisenring WM, Brodie SA, de Andrade KC, Fortes FP, Goldstein AM, Khincha PP, Machiela MJ, McMaster ML, Nickerson ML, Oba L, Pemov A, Pinheiro M, Rotunno M, Santiago K, Wegman-Ostrosky T, Diver WR, Teras L, Freedman ND, Hicks BD, Zhu B, Wang M, Jones K, Hutchinson AA, Dagnall C, Savage SA, Tucker MA, Chanock SJ, Morton LM, Stewart DR, Mirabello L. Kim J, et al. Among authors: frone mn. JNCI Cancer Spectr. 2021 Jan 23;5(2):pkab007. doi: 10.1093/jncics/pkab007. eCollection 2021 Apr. JNCI Cancer Spectr. 2021. PMID: 34308104 Free PMC article.
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady AF, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Christensen LL, Cini G, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Evans DG, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J; KConFab Investigators; HEBON Investigators; Izatt L, Izquierdo A, James PA, Janavicius R, Jensen UB, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morris… See abstract for full author list ➔ Barnes DR, et al. Among authors: frone m. J Natl Cancer Inst. 2022 Jan 11;114(1):109-122. doi: 10.1093/jnci/djab147. J Natl Cancer Inst. 2022. PMID: 34320204 Free PMC article.
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
Li S, Silvestri V, Leslie G, Rebbeck TR, Neuhausen SL, Hopper JL, Nielsen HR, Lee A, Yang X, McGuffog L, Parsons MT, Andrulis IL, Arnold N, Belotti M, Borg Å, Buecher B, Buys SS, Caputo SM, Chung WK, Colas C, Colonna SV, Cook J, Daly MB, de la Hoya M, de Pauw A, Delhomelle H, Eason J, Engel C, Evans DG, Faust U, Fehm TN, Fostira F, Fountzilas G, Frone M, Garcia-Barberan V, Garre P, Gauthier-Villars M, Gehrig A, Glendon G, Goldgar DE, Golmard L, Greene MH, Hahnen E, Hamann U, Hanson H, Hassan T, Hentschel J, Horvath J, Izatt L, Janavicius R, Jiao Y, John EM, Karlan BY, Kim SW, Konstantopoulou I, Kwong A, Laugé A, Lee JW, Lesueur F, Mebirouk N, Meindl A, Mouret-Fourme E, Musgrave H, Ngeow Yuen Yie J, Niederacher D, Park SK, Pedersen IS, Ramser J, Ramus SJ, Rantala J, Rashid MU, Reichl F, Ritter J, Rump A, Santamariña M, Saule C, Schmidt G, Schmutzler RK, Senter L, Shariff S, Singer CF, Southey MC, Stoppa-Lyonnet D, Sutter C, Tan Y, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Torres D, Vega A, Wagner SA, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Spurdle AB, Easton DF, Chenevix-Trench G, Ottini L, Antoniou AC. Li S, et al. Among authors: frone m. J Clin Oncol. 2022 May 10;40(14):1529-1541. doi: 10.1200/JCO.21.02112. Epub 2022 Jan 25. J Clin Oncol. 2022. PMID: 35077220 Free PMC article.
Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk.
Grasso C, Popovic M, Isaevska E, Lazzarato F, Fiano V, Zugna D, Pluta J, Weathers B, D'Andrea K, Almstrup K, Anson-Cartwright L, Bishop DT, Chanock SJ, Chen C, Cortessis VK, Dalgaard MD, Daneshmand S, Ferlin A, Foresta C, Frone MN, Gamulin M, Gietema JA, Greene MH, Grotmol T, Hamilton RJ, Haugen TB, Hauser R, Karlsson R, Kiemeney LA, Lessel D, Lista P, Lothe RA, Loveday C, Meijer C, Nead KT, Nsengimana J, Skotheim RI, Turnbull C, Vaughn DJ, Wiklund F, Zheng T, Zitella A, Schwartz SM, McGlynn KA, Kanetsky PA, Nathanson KL, Richiardi L. Grasso C, et al. Among authors: frone mn. Cancer Epidemiol Biomarkers Prev. 2022 Sep 2;31(9):1769-1779. doi: 10.1158/1055-9965.EPI-22-0123. Cancer Epidemiol Biomarkers Prev. 2022. PMID: 35700037 Free PMC article.
84 results