Cancer prevention in cancer predisposition syndromes: A protocol for testing the feasibility of building a hereditary cancer research registry and nurse navigator follow up model.
Etchegary H, Pike A, Puddester R, Watkins K, Warren M, Francis V, Woods M, Green J, Savas S, Seal M, Gao Z, Avery S, Curtis F, McGrath J, MacDonald D, Burry TN, Dawson L.
PLoS One. 2022 Dec 22;17(12):e0279317. doi: 10.1371/journal.pone.0279317.
A systematic method for detecting abnormal mRNA splicing and assessing its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes.
Kamps-Hughes N, Carlton VEH, Fresard L, Osazuwa S, Starks E, Vincent JJ, Albritton S, Nussbaum RL, Nykamp K.
J Mol Diagn. 2022 Dec 20:S1525-1578(22)00348-8. doi: 10.1016/j.jmoldx.2022.12.002. Epub ahead of print.
A systematic method for detecting abnormal mRNA splicing and assessing its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes.
Kamps-Hughes N, Carlton VEH, Fresard L, Osazuwa S, Starks E, Vincent JJ, Albritton S, Nussbaum RL, Nykamp K.
J Mol Diagn. 2022 Dec 20:S1525-1578(22)00348-8. doi: 10.1016/j.jmoldx.2022.12.002. Epub ahead of print.
A systematic method for detecting abnormal mRNA splicing and assessing its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes.
Kamps-Hughes N, Carlton VEH, Fresard L, Osazuwa S, Starks E, Vincent JJ, Albritton S, Nussbaum RL, Nykamp K.
J Mol Diagn. 2022 Dec 20:S1525-1578(22)00348-8. doi: 10.1016/j.jmoldx.2022.12.002. Epub ahead of print.
Development and validation of genome-wide polygenic risk scores for predicting breast cancer incidence in Japanese females: a population-based case-cohort study.
Ohbe H, Hachiya T, Yamaji T, Nakano S, Miyamoto Y, Sutoh Y, Otsuka-Yamasaki Y, Shimizu A, Yasunaga H, Sawada N, Inoue M, Tsugane S, Iwasaki M; for the Japan Public Health Center-based Prospective Study Group.
Breast Cancer Res Treat. 2022 Dec 20. doi: 10.1007/s10549-022-06843-6. Epub ahead of print.
Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.
Abdel-Razeq H, Al-Azzam K, Elemian S, Abu-Fares H, Abu Sheikha A, Bani Hani H, Bater R, Sharaf B, Heald B, Esplin ED, Nielsen SM, Alkyam M, Abujamous L, Al-Attary A.
Mol Genet Genomic Med. 2022 Dec 19:e2125. doi: 10.1002/mgg3.2125. Epub ahead of print.
Development and Psychometric Evaluation of Healthcare Access Measures among Women with Ovarian Cancer.
Akinyemiju T, Joshi A, Deveaux A, Wilson LE, Chen D, Meernik C, Bevel M, Gathings J, Fish L, Barrett N, Worthy V, Boyce X, Martin K, Robinson C, Pisu M, Liang M, Potosky A, Huang B, Ward K, Schymura MJ, Berchuck A, Reeve BB.
Cancers (Basel). 2022 Dec 19;14(24):6266. doi: 10.3390/cancers14246266.
Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations.
Kuzbari Z, Bandlamudi C, Loveday C, Garrett A, Mehine M, George A, Hanson H, Snape K, Kulkarni A, Allen S, Jezdic S, Ferrandino R, Westphalen CB, Castro E, Rodon J, Mateo J, Burghel GJ, Berger MF, Mandelker D, Turnbull C.
Ann Oncol. 2022 Dec 15:S0923-7534(22)04771-8. doi: 10.1016/j.annonc.2022.12.003. Epub ahead of print.
Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature.
Lee CL, Holter S, Borgida A, Dodd A, Ramotar S, Grant R, Wasson K, Elimova E, Jang RW, Moore M, Kim TK, Khalili K, Moulton CA, Gallinger S, O'Kane GM, Knox JJ.
World J Gastroenterol. 2022 Dec 7;28(45):6421-6432. doi: 10.3748/wjg.v28.i45.6421.
Concordance between single-nucleotide polymorphism-based genomic instability assays and a next-generation sequencing-based homologous recombination deficiency test.
Cristescu R, Liu XQ, Arreaza G, Chen C, Albright A, Qiu P, Marton MJ.
BMC Cancer. 2022 Dec 14;22(1):1310. doi: 10.1186/s12885-022-10197-z.
Ovarian cancer mutational processes drive site-specific immune evasion.
Vázquez-García I, Uhlitz F, Ceglia N, Lim JLP, Wu M, Mohibullah N, Niyazov J, Ruiz AEB, Boehm KM, Bojilova V, Fong CJ, Funnell T, Grewal D, Havasov E, Leung S, Pasha A, Patel DM, Pourmaleki M, Rusk N, Shi H, Vanguri R, Williams MJ, Zhang AW, Broach V, Chi DS, Da Cruz Paula A, Gardner GJ, Kim SH, Lennon M, Long Roche K, Sonoda Y, Zivanovic O, Kundra R, Viale A, Derakhshan FN, Geneslaw L, Issa Bhaloo S, Maroldi A, Nunez R, Pareja F, Stylianou A, Vahdatinia M, Bykov Y, Grisham RN, Liu YL, Lakhman Y, Nikolovski I, Kelly D, Gao J, Schietinger A, Hollmann TJ, Bakhoum SF, Soslow RA, Ellenson LH, Abu-Rustum NR, Aghajanian C, Friedman CF, McPherson A, Weigelt B, Zamarin D, Shah SP.
Nature. 2022 Dec 14. doi: 10.1038/s41586-022-05496-1. Epub ahead of print.
Prolonged response on olaparib maintenance in metastatic pancreatic acinar cell carcinoma associated with a germline BRCA 2 mutation, revealed by severe panniculitis.
Lelong M, Raoul JL, Touchefeu Y, Berthelot JM, Arnolfo P, Matysiak-Budnik T, Senellart H.
Clin Case Rep. 2022 Dec 12;10(12):e6718. doi: 10.1002/ccr3.6718.
Understanding cancer genetic risk assessment motivations in a remote tailored risk communication and navigation intervention randomized controlled trial.
Le Compte CG, Lu SE, Ani J, McDougall J, Walters ST, Toppmeyer D, Boyce TW, Stroup A, Paddock L, Grumet S, Lin Y, Heidt E, Kinney AY.
Health Psychol Behav Med. 2022 Dec 9;10(1):1190-1215. doi: 10.1080/21642850.2022.2150623.
Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches.
Roggia C, Armeanu-Ebinger S, Gschwind A, Seibel-Kelemen O, Hertler S, Faust U, Liebmann A, Haack TB, Neumann M, Bonzheim I, Forschner A, Kopp HG, Herster F, Hartkopf A, Bitzer M, Malek NP, Brecht IB, Ruhm K, Möller Y, Löwenheim H, Ossowski S, Rieß OH, Schroeder C.
Eur J Cancer. 2023 Jan 1;179:48-55. doi: 10.1016/j.ejca.2022.11.003. Epub ahead of print.