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Homologous recombination DNA repair defects in PALB2-associated breast cancers.
Li A, Geyer FC, Blecua P, Lee JY, Selenica P, Brown DN, Pareja F, Lee SSK, Kumar R, Rivera B, Bi R, Piscuoglio S, Wen HY, Lozada JR, Gularte-Mérida R, Cavallone L; kConFab Investigators; Rezoug Z, Nguyen-Dumont T, Peterlongo P, Tondini C, Terkelsen T, Rønlund K, Boonen SE, Mannerma A, Winqvist R, Janatova M, Rajadurai P, Xia B, Norton L, Robson ME, Ng PS, Looi LM, Southey MC, Weigelt B, Soo-Hwang T, Tischkowitz M, Foulkes WD, Reis-Filho JS. Li A, et al. Among authors: rivera b. NPJ Breast Cancer. 2019 Aug 8;5:23. doi: 10.1038/s41523-019-0115-9. eCollection 2019. NPJ Breast Cancer. 2019. PMID: 31428676 Free PMC article.
Colorectal Adenomas.
Castellsagué E, Rivera B, Foulkes WD. Castellsagué E, et al. Among authors: rivera b. N Engl J Med. 2016 Jul 28;375(4):389. doi: 10.1056/NEJMc1604867. N Engl J Med. 2016. PMID: 27464216 No abstract available.
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
de Kock L, Rivera B, Revil T, Thorner P, Goudie C, Bouron-Dal Soglio D, Choong CS, Priest JR, van Diest PJ, Tanboon J, Wagner A, Ragoussis J, Choong PF, Foulkes WD. de Kock L, et al. Among authors: rivera b. Br J Cancer. 2017 Jun 6;116(12):1621-1626. doi: 10.1038/bjc.2017.147. Epub 2017 May 18. Br J Cancer. 2017. PMID: 28524158 Free PMC article.
Monogenic Diseases of DNA Repair.
Rivera B, Polak P, Foulkes WD. Rivera B, et al. N Engl J Med. 2018 Feb 1;378(5):491. doi: 10.1056/NEJMc1716072. N Engl J Med. 2018. PMID: 29394477 No abstract available.
Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.
Castellsagué E, Li R, Aligue R, González S, Sanz J, Martin E, Velasco À, Capellá G, Stewart CJR, Vidal A, Majewski J, Rivera B, Polak P, Matias-Guiu X, Brunet J, Foulkes WD. Castellsagué E, et al. Among authors: rivera b. Hum Mutat. 2019 Jan;40(1):36-41. doi: 10.1002/humu.23676. Epub 2018 Nov 20. Hum Mutat. 2019. PMID: 30362666
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Glentis S, Dimopoulos AC, Rouskas K, Ntritsos G, Evangelou E, Narod SA, Mes-Masson AM, Foulkes WD, Rivera B, Tonin PN, Ragoussis J, Dimas AS. Glentis S, et al. Among authors: rivera b. Front Genet. 2019 Oct 18;10:1005. doi: 10.3389/fgene.2019.01005. eCollection 2019. Front Genet. 2019. PMID: 31681433 Free PMC article.
281 results