Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
Carrera S, Rodríguez-Martínez AB, Garin I, Sarasola E, Martínez C, Maortua H, Callejo A, Ruiz de Lobera A, Muñoz A, Miñambres N, Jiménez-Labaig P.
Hered Cancer Clin Pract. 2023 Jan 28;21(1):2. doi: 10.1186/s13053-023-00246-4.
Decreased time from diagnosis to referral of PDAC patients: a quality improvement effort. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
Cohen SA, Doran W, Harshbarger C, Nixon DM, Lichtenberg E, Cantafio A.
Fam Cancer. [P-24: Research Categories» Delivery of Care and Alternative Models.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
LINE-1 ORF1p as a candidate biomarker in high grade serous ovarian carcinoma.
Sato S, Gillette M, de Santiago PR, Kuhn E, Burgess M, Doucette K, Feng Y, Mendez-Dorantes C, Ippoliti PJ, Hobday S, Mitchell MA, Doberstein K, Gysler SM, Hirsch MS, Schwartz L, Birrer MJ, Skates SJ, Burns KH, Carr SA, Drapkin R.
Sci Rep. 2023 Jan 27;13(1):1537. doi: 10.1038/s41598-023-28840-5.
Deoxycytidine kinase (dCK) inhibition is synthetic lethal with BRCA2 deficiency.
Guantay L, Garro C, Siri S, Pansa MF, Ghidelli-Disse S, Paviolo N, Racca A, Nicotra V, Radu C, Bocco JL, Felice R, Jansson KH, Remlinger K, Amador A, Stronach E, Coleman K, Muelbaier M, Drewes G, Gloger I, Madauss K, García M, Gottifredi V, Soria G.
Drug Resist Updat. 2023 Jan 22;67:100932. doi: 10.1016/j.drup.2023.100932. Epub ahead of print.
Oncologist knowledge of cost of genetic testing. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
Weiner S, Austin SE, Carr G, Kidwell KM, Resnicow K, Martinez Stoffel E, Griggs J.
Fam Cancer. [P-23: Research Categories» Delivery of Care and Alternative Models.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
Decreased time from diagnosis to referral of PDAC patients: a quality improvement effort. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
Cohen SA, Doran W, Harshbarger C, Nixon DM, Lichtenberg E, Cantafio A.
Fam Cancer. [P-24: Research Categories» Delivery of Care and Alternative Models.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
Pairing tumor testing with germline sequencing increases the number of pathogenic germline variants identified. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
Decreased time from diagnosis to referral of PDAC patients: a quality improvement effort. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
Cohen SA, Doran W, Harshbarger C, Nixon DM, Lichtenberg E, Cantafio A.
Fam Cancer. [P-24: Research Categories» Delivery of Care and Alternative Models.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
Pairing tumor testing with germline sequencing increases the number of pathogenic germline variants identified. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
Carrera S, Rodríguez-Martínez AB, Garin I, Sarasola E, Martínez C, Maortua H, Callejo A, Ruiz de Lobera A, Muñoz A, Miñambres N, Jiménez-Labaig P.
Hered Cancer Clin Pract. 2023 Jan 28;21(1):2. doi: 10.1186/s13053-023-00246-4.
Oncologist knowledge of cost of genetic testing. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
Weiner S, Austin SE, Carr G, Kidwell KM, Resnicow K, Martinez Stoffel E, Griggs J.
Fam Cancer. [P-23: Research Categories» Delivery of Care and Alternative Models.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
Decreased time from diagnosis to referral of PDAC patients: a quality improvement effort. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
Cohen SA, Doran W, Harshbarger C, Nixon DM, Lichtenberg E, Cantafio A.
Fam Cancer. [P-24: Research Categories» Delivery of Care and Alternative Models.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
Pairing tumor testing with germline sequencing increases the number of pathogenic germline variants identified. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.
Figlioli G, Billaud A, Ahearn TU, Antonenkova NN, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blok MJ, Bogdanova NV, Bonanni B, Burwinkel B, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chanock SJ; NBCS Collaborators; Czene K, Devilee P, Dörk T, Engel C, Eriksson M, Fasching PA, Figueroa JD, Gabrielson M, Gago-Dominguez M, García-Closas M, González-Neira A, Grassmann F, Guénel P, Gündert M, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Harrington PA, He W, Hillemanns P, Hollestelle A, Hooning MJ, Hoppe R, Howell A, Humphreys K; KConFab Investigators; Jager A, Jakubowska A, Khusnutdinova EK, Ko YD, Kristensen VN, Lindblom A, Lissowska J, Lubiński J, Mannermaa A, Manoukian S, Margolin S, Mavroudis D, Newman WG, Obi N, Panayiotidis MI, Rashid MU, Rhenius V, Rookus MA, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sironen R, Southey MC, Suvanto M, Tollenaar RAEM, Tomlinson I, Truong T, van der Kolk LE, van Veen EM, Wappenschmidt B, Yang XR, Bolla MK, Dennis J, Dunning AM, Easton DF, Lush M, Michailidou K, Pharoah PDP, Wang Q, Adank MA, Schmidt MK, Andrulis IL, Chang-Claude J, Nevanlinna H, Chenevix-Trench G, Evans DG, Milne RL, Radice P, Peterlongo P.
Eur J Hum Genet. 2023 Jan 27. doi: 10.1038/s41431-022-01257-w. Epub ahead of print.
LINE-1 ORF1p as a candidate biomarker in high grade serous ovarian carcinoma.
Sato S, Gillette M, de Santiago PR, Kuhn E, Burgess M, Doucette K, Feng Y, Mendez-Dorantes C, Ippoliti PJ, Hobday S, Mitchell MA, Doberstein K, Gysler SM, Hirsch MS, Schwartz L, Birrer MJ, Skates SJ, Burns KH, Carr SA, Drapkin R.
Sci Rep. 2023 Jan 27;13(1):1537. doi: 10.1038/s41598-023-28840-5.