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Items: 1 to 20 of 770

1.
The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer
Anna Öfverholm, Per Karlsson, Anna Rosén
Eur J Hum Genet. 2024 May; 32(5): 539–544. Published online 2024 Feb 14. doi: 10.1038/s41431-024-01551-9
PMCID:
PMC11061288
ArticlePDF–624K
2.
Case report: Salivary duct carcinoma in a patient with a germline CDH1 pathogenic variant - expanding the spectrum of hereditary cancer predisposition syndromes
Nidhi Desai, Emilian Racila, Naomi Fujioka, Arjun Gupta, Emmanuel S. Antonarakis
Front Oncol. 2024; 14: 1372382. Published online 2024 Apr 8. doi: 10.3389/fonc.2024.1372382
PMCID:
PMC11034483
ArticlePDF–1.1M
3.
Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review
Jianbang Chiang, Ziyang Chua, Jia Ying Chan, Ashita Ashish Sule, Wan Hsein Loke, Elaine Lum, Marcus Eng Hock Ong, Nicholas Graves, Joanne Ngeow
NPJ Genom Med. 2024; 9: 26. Published online 2024 Apr 3. doi: 10.1038/s41525-024-00412-0
PMCID:
PMC10991315
ArticlePDF–713K
4.
Preferences for Genetic Testing to Predict the Risk of Developing Hereditary Cancer: A Systematic Review of Discrete Choice Experiments
N. Morrish, T. Snowsill, S. Dodman, A. Medina-Lara
Med Decis Making. 2024 Apr; 44(3): 252–268. Published online 2024 Feb 7. doi: 10.1177/0272989X241227425
PMCID:
PMC10988993
ArticlePDF–1.0M
5.
Genetic testing for hereditary cancer syndromes in Tunisian patients: Impact on health system
Nouha Jandoubi, Maroua Boujemaa, Najah Mighri, Nesrine Mejri, Sonia Ben Nasr, Hanen Bouaziz, Yosra Berrazega, Haifa Rachdi, Nouha Daoud, Aref Zribi, Jihene Ayari, Houda El Benna, Soumaya Labidi, Abderazzek Haddaoui, Ridha Mrad, Slim Ben Ahmed, Hamouda Boussen, Sonia Abdelhak, Samir Boubaker, Yosr Hamdi
Transl Oncol. 2024 May; 43: 101912. Published online 2024 Feb 21. doi: 10.1016/j.tranon.2024.101912
PMCID:
PMC10900923
ArticlePDF–2.4M
6.
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes
Wataru Nakamura, Makoto Hirata, Satoyo Oda, Kenichi Chiba, Ai Okada, Raúl Nicolás Mateos, Masahiro Sugawa, Naoko Iida, Mineko Ushiama, Noriko Tanabe, Hiromi Sakamoto, Shigeki Sekine, Akira Hirasawa, Yosuke Kawai, Katsushi Tokunaga, NCBN Controls WGS Consortium, Shin-ichi Tsujimoto, Norio Shiba, Shuichi Ito, Teruhiko Yoshida, Yuichi Shiraishi
NPJ Genom Med. 2024; 9: 11. Published online 2024 Feb 17. doi: 10.1038/s41525-024-00394-z
PMCID:
PMC10874402
ArticlePDF–1.6M
7.
“There should be one spot that you can go:” BRCA mutation carriers’ perspectives on cancer risk management and a hereditary cancer registry
J. Hynes, L. Dawson, M. Seal, J. Green, M. Woods, H. Etchegary
J Community Genet. 2024 Feb; 15(1): 49–58. Published online 2023 Oct 21. doi: 10.1007/s12687-023-00685-5
PMCID:
PMC10858006
ArticlePDF–842K
8.
Retrospective chart analysis to determine the impact of a patient-facing digital risk stratification tool combined with a clinical screener for hereditary cancer genetic risk assessment triage in a community oncology clinic
Kate P. Shane-Carson, Douglas Smith, Angie Smith, Caroline Seeley
J Community Genet. 2024 Feb; 15(1): 25–31. Published online 2023 Oct 27. doi: 10.1007/s12687-023-00687-3
PMCID:
PMC10857995
ArticlePDF–784K
9.
Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives
Brandie Heald, Sara Pirzadeh-Miller, Rachel E Ellsworth, Sarah M Nielsen, Emily M Russell, Peter Beitsch, Edward D Esplin, Robert L Nussbaum, Daniel E Pineda-Alvarez, Allison W Kurian, Heather Hampel
J Natl Cancer Inst. 2024 Feb; 116(2): 334–337. Published online 2023 Sep 26. doi: 10.1093/jnci/djad203
PMCID:
PMC10852611
ArticlePDF–560K
10.
Preimplantation genetic testing for embryos predisposed to hereditary cancer: Possibilities and challenges
Mohammed H. Albujja, Maher Al-Ghedan, Lakshmidevi Dakshnamoorthy, Josep Pla Victori
Cancer Pathog Ther. 2024 Jan; 2(1): 1–14. Published online 2023 May 16. doi: 10.1016/j.cpt.2023.05.002
PMCID:
PMC10846329
ArticlePDF–1.0M
11.
Feasibility and Clinical Utility of Reporting Hereditary Cancer Predisposition Pathogenic Variants Identified in Research Germline Sequencing: A Prospective Interventional Study
Megan L. Hutchcraft, Shulin Zhang, Nan Lin, Justine C. Pickarski, Elizabeth A. Belcher, Sainan Wei, Thèrése Bocklage, Rachel W. Miller, John L. Villano, Michael J. Cavnar, Joseph Kim, Susanne M. Arnold, Frederick R. Ueland, Jill M. Kolesar
JCO Precis Oncol. 2024; 8: e2300266. Published online 2024 Jan 31. doi: 10.1200/PO.23.00266
PMCID:
PMC10843325
ArticlePDF–621K
12.
Enhanced family history-based algorithms increase the identification of individuals meeting criteria for genetic testing of hereditary cancer syndromes but would not reduce disparities on their own
Richard L. Bradshaw, Kensaku Kawamoto, Jemar R. Bather, Melody S. Goodman, Wendy K. Kohlmann, Daniel Chavez-Yenter, Molly Volkmar, Rachel Monahan, Kimberly A. Kaphingst, Guilherme Del Fiol
J Biomed Inform. Author manuscript; available in PMC 2024 Feb 5.
Published in final edited form as: J Biomed Inform. 2024 Jan; 149: 104568. Published online 2023 Dec 9. doi: 10.1016/j.jbi.2023.104568
PMCID:
PMC10842777
ArticlePDF–151K
13.
Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer
Sara Fernández-Castillejo, Bàrbara Roig, Mireia Melé, Sara Serrano, Mònica Salvat, Montserrat Querol, Joan Brunet, Marta Pineda, Adela Cisneros, David Parada, Joan Badia, Joan Borràs, Marta Rodríguez-Balada, Josep Gumà
J Med Genet. 2024 Jan; 61(1): 69–77. Published online 2023 Aug 17. doi: 10.1136/jmg-2023-109389
PMCID:
PMC10803988
ArticlePDF–407K
14.
Hereditary cancer testing in a diverse sample across three breast imaging centers
Laura Westbrook, Darlene Miltenburg, Vivienne Souter, Melissa K. Maisenbacher, Katherine L. Howard, Youbao Sha, Maygol Yavari, Nicholas Kypraios, Angel Rodriguez, Jeffrey N. Weitzel
Breast Cancer Res Treat. 2024; 203(2): 365–372. Published online 2023 Oct 20. doi: 10.1007/s10549-023-07137-1
PMCID:
PMC10787882
ArticlePDF–885K
15.
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis
Airat Bilyalov, Anastasiia Danishevich, Sergey Nikolaev, Nikita Vorobyov, Ivan Abramov, Ekaterina Pismennaya, Svetlana Terehova, Yuliya Kosilova, Anastasiia Primak, Uglesha Stanoevich, Tatyana Lisica, German Shipulin, Sergey Gamayunov, Elena Kolesnikova, Igor Khatkov, Oleg Gusev, Natalia Bodunova
Cancers (Basel) 2024 Jan; 16(1): 85. Published online 2023 Dec 23. doi: 10.3390/cancers16010085
PMCID:
PMC10778304
ArticlePDF–537K
16.
CDKN2A Gene Mutations: Implications for Hereditary Cancer Syndromes
Anastasiia Danishevich, Airat Bilyalov, Sergey Nikolaev, Nodirbec Khalikov, Daria Isaeva, Yuliya Levina, Maria Makarova, Marina Nemtsova, Denis Chernevskiy, Olesya Sagaydak, Elena Baranova, Maria Vorontsova, Mariya Byakhova, Anna Semenova, Vsevolod Galkin, Igor Khatkov, Saida Gadzhieva, Natalia Bodunova
Biomedicines. 2023 Dec; 11(12): 3343. Published online 2023 Dec 18. doi: 10.3390/biomedicines11123343
PMCID:
PMC10741544
ArticlePDF–499K
17.
Direct letters to relatives at risk of hereditary cancer—study protocol for a multi-center randomized controlled trial of healthcare-assisted versus family-mediated risk disclosure at Swedish cancer genetics clinics (DIRECT-study)
Carolina Hawranek, Hans Ehrencrona, Anna Öfverholm, Barbro Numan Hellquist, Anna Rosén
Trials. 2023; 24: 810. Published online 2023 Dec 17. doi: 10.1186/s13063-023-07829-5
PMCID:
PMC10726564
ArticlePDF–1.5M
18.
When and how to enlighten citizens on genetics and hereditary cancer: a web survey of online video viewers
Reimi Sogawa, Takahito Wada, Noriyuki Yamashita, Mariko Kochi, Mashu Futagawa, Fumino Kato, Yusaku Urakawa, Yayoi Tanimura, Hideki Yamamoto, Shuta Tomida, Shinji Kosugi, Akira Hirasawa
J Community Genet. 2023 Dec; 14(6): 575–581. Published online 2023 Sep 16. doi: 10.1007/s12687-023-00663-x
PMCID:
PMC10725408
ArticlePDF–664K
19.
Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil
Polyanna Oliveira, Paula Correa, Angelina Acosta, Juliana Freitas, Taísa Machado-Lopes, Thais Bomfim-Palma, Ândrea Ribeiro-dos-Santos, Sidney Santos, Roberto Nascimento, Ivana Nascimento, Kiyoko Abe-Sandes
Glob Med Genet. 2023 Dec; 10(4): 376–381. Published online 2023 Dec 8. doi: 10.1055/s-0043-1777449
PMCID:
PMC10709072
ArticlePDF–406K
20.
Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing
Carolyn Horton, Lily Hoang, Heather Zimmermann, Colin Young, Jessica Grzybowski, Kate Durda, Huy Vuong, David Burks, Ashley Cass, Holly LaDuca, Marcy E. Richardson, Steven Harrison, Elizabeth C. Chao, Rachid Karam
JAMA Oncol. 2024 Feb; 10(2): 212–219. Published online 2023 Nov 4. doi: 10.1001/jamaoncol.2023.5586
PMCID:
PMC10625669
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