The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group - PubMed (original) (raw)

• Real-World Concordance between Germline and Tumour BRCA1/2 Status in Epithelial Ovarian Cancer.
  Morgan RD, Burghel GJ, Schlecht H, Clamp AR, Hasan J, Mitchell CL, Salih Z, Shaw J, Desai S, Jayson GC, Woodward ER, Evans DGR. Morgan RD, et al. Cancers (Basel). 2023 Dec 29;16(1):177. doi: 10.3390/cancers16010177. Cancers (Basel). 2023. PMID: 38201604 Free PMC article.
• Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.
  Nurmi AK, Suvanto M, Dennis J, Aittomäki K, Blomqvist C, Nevanlinna H. Nurmi AK, et al. Cancers (Basel). 2022 Dec 14;14(24):6158. doi: 10.3390/cancers14246158. Cancers (Basel). 2022. PMID: 36551643 Free PMC article.
• Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.
  DeVries AA, Dennis J, Tyrer JP, Peng PC, Coetzee SG, Reyes AL, Plummer JT, Davis BD, Chen SS, Dezem FS, Aben KKH, Anton-Culver H, Antonenkova NN, Beckmann MW, Beeghly-Fadiel A, Berchuck A, Bogdanova NV, Bogdanova-Markov N, Brenton JD, Butzow R, Campbell I, Chang-Claude J, Chenevix-Trench G, Cook LS, DeFazio A, Doherty JA, Dörk T, Eccles DM, Eliassen AH, Fasching PA, Fortner RT, Giles GG, Goode EL, Goodman MT, Gronwald J; OPAL Study Group; AOCS Group; Håkansson N, Hildebrandt MAT, Huff C, Huntsman DG, Jensen A, Kar S, Karlan BY, Khusnutdinova EK, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Labrie M, Lambrechts D, Le ND, Lubiński J, May T, Menon U, Milne RL, Modugno F, Monteiro AN, Moysich KB, Odunsi K, Olsson H, Pearce CL, Pejovic T, Ramus SJ, Riboli E, Riggan MJ, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Sieh W, Song H, Sutphen R, Terry KL, Thompson PJ, Titus L, Tworoger SS, Van Nieuwenhuysen E, Edwards DV, Webb PM, Wentzensen N, Whittemore AS, Wolk A, Wu AH, Ziogas A, Freedman ML, Lawrenson K, Pharoah PDP, Easton DF, Gayther SA, Jones MR. DeVries AA, et al. J Natl Cancer Inst. 2022 Nov 14;114(11):1533-1544. doi: 10.1093/jnci/djac160. J Natl Cancer Inst. 2022. PMID: 36210504 Free PMC article.
• Rare germline copy number variants (CNVs) and breast cancer risk.
  Dennis J, Tyrer JP, Walker LC, Michailidou K, Dorling L, Bolla MK, Wang Q, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brenner H, Castelao JE, Chang-Claude J, Chenevix-Trench G, Clarke CL; NBCS Collaborators; Collée JM; CTS Consortium; Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Dossus L, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, González-Neira A, Guénel P, Hahnen E, Haiman CA, Hall P, Hollestelle A, Hoppe R, Hopper JL, Howell A; ABCTB Investigators; kConFab/AOCS Investigators; Jager A, Jakubowska A, John EM, Johnson N, Jones ME, Jung A, Kaaks R, Keeman R, Khusnutdinova E, Kitahara CM, Ko YD, Kosma VM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Lacey JV, Lambrechts D, Larson NL, Linet M, Ogrodniczak A, Mannermaa A, Manoukian S, Margolin S, Mavroudis D, Milne RL, Muranen TA, Murphy RA, Nevanlinna H, Olson JE, Olsson H, Park-Simon TW, Perou CM, Peterlongo P, Plaseska-Karanfilska D, Pylkäs K, Rennert G, Saloustros E, Sandler … See abstract for full author list ➔ Dennis J, et al. Commun Biol. 2022 Jan 18;5(1):65. doi: 10.1038/s42003-021-02990-6. Commun Biol. 2022. PMID: 35042965 Free PMC article.
• The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit.
  Frugtniet B, Morgan S, Murray A, Palmer-Smith S, White R, Jones R, Hanna L, Fuller C, Hudson E, Mullard A, Quinton AE. Frugtniet B, et al. BJOG. 2022 Feb;129(3):433-442. doi: 10.1111/1471-0528.16975. Epub 2021 Nov 8. BJOG. 2022. PMID: 34657373 Free PMC article.