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• Rare Germline Variants in DNA Repair Genes Detected in BRCA-Negative Finnish Patients with Early-Onset Breast Cancer.

  Kurkilahti V, Rathinakannan VS, Nynäs E, Goel N, Aittomäki K, Nevanlinna H, Fey V, Kankuri-Tammilehto M, Schleutker J. Kurkilahti V, et al. Cancers (Basel). 2024 Aug 24;16(17):2955. doi: 10.3390/cancers16172955. Cancers (Basel). 2024. PMID: 39272813 Free PMC article.
• CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.

  CHEK2 Breast Cancer Case-Control Consortium. CHEK2 Breast Cancer Case-Control Consortium. Am J Hum Genet. 2004 Jun;74(6):1175-82. doi: 10.1086/421251. Epub 2004 Apr 30. Am J Hum Genet. 2004. PMID: 15122511 Free PMC article.
• Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.

  Edwards E, Yearwood C, Sillibourne J, Baralle D, Eccles D. Edwards E, et al. Fam Cancer. 2009;8(4):479-82. doi: 10.1007/s10689-009-9270-8. Epub 2009 Jul 21. Fam Cancer. 2009. PMID: 19629752
• High prevalence of preinvasive lesions adjacent to BRCA1/2-associated breast cancers.

  Arun B, Vogel KJ, Lopez A, Hernandez M, Atchley D, Broglio KR, Amos CI, Meric-Bernstam F, Kuerer H, Hortobagyi GN, Albarracin CT. Arun B, et al. Cancer Prev Res (Phila). 2009 Feb;2(2):122-7. doi: 10.1158/1940-6207.CAPR-08-0050. Epub 2009 Jan 27. Cancer Prev Res (Phila). 2009. PMID: 19174581 Free PMC article.
• A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.

  Wendt C, Muranen TA, Mielikäinen L, Thutkawkorapin J, Blomqvist C, Jiao X, Ehrencrona H, Tham E, Arver B, Melin B, Kuchinskaya E, Stenmark Askmalm M, Paulsson-Karlsson Y, Einbeigi Z, von Wachenfeldt Väppling A, Kalso E, Tasmuth T, Kallioniemi A, Aittomäki K, Nevanlinna H, Borg Å, Lindblom A. Wendt C, et al. Sci Rep. 2021 Jul 20;11(1):14763. doi: 10.1038/s41598-021-93926-x. Sci Rep. 2021. PMID: 34285278 Free PMC article.