Sự thiếu hụt của exon 3–5 của BRCA1 là sự đảo ngược đầu tiên được xác định ở các gia đình bị ung thư vú và/hoặc buồng trứng tại Tây Ban Nha

Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drüsedau M, Hogervorst FB, Hageman S, Arts PJ, Ligtenberg MJ, Meijers-Heijboer H, Klijn JG, Vasen HF, Cornelisse CJ, van ‘t Veer LJ, Bakker E, van Ommen GJ, Devilee P (1997) BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17:341–345 Sluiter MD, van Rensburg EJ (2011) Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation. Breast Cancer Res Treat 125:325–349 Hogervorst FBL, Nederlof PM, Gille JJP, McElgunn CJ, Grippeling M, Pruntel R, Regnerus R, van Welsem T, van Spaendonk R, Menko FH, Kluijt I, Dommering C, Verhoef S, Schouten JP, van’t Veer LJ, Pals G (2003) Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 63:1449–1453 van den Ouweland AM, Dinjens WN, Dorssers LC, van Veghel-Plandsoen MM, Brüggenwirth HT, Withagen-Hermans CJ, Collée JM, Joosse SA, Terlouw-Kromosoeto JN, Nederlof PM (2009) Deletion of exons 1a–2 of BRCA1: a rather frequent pathogenic abnormality. Genet Test Mol Biomarkers 13:399–406 Puget N, Sinilnikova OM, Stoppa-Lyonnet D, Audoynaud C, Pages S, Lynch HT, Goldgar D, Lenoir GM, Mazoyer S (1999) An Alu-mediated 6–kb duplication in the BRCA1 gene: a new founder mutation? Am J Hum Genet 64:300–302 The BRCA1 Exon 13 Duplication Screening Group (2000) The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. Am J Hum Genet 67:207–212 Mazoyer S (2005) Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat 25:415–422 Machado PM, Brandão RD, Cavaco BM, Eugénio J, Bento S, Nave M, Rodrigues P, Fernandes A, Vaz F (2007) Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes. J Clin Oncol 25:2027–2034 Peixoto A, Santos C, Rocha P, Pinheiro M, Príncipe S, Pereira D, Rodrigues H, Castro F, Abreu J, Gusmão L, Amorim A, Teixeira MR (2009) The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal. Breast Cancer Res Treat 114:31–38 Palanca Suela S, Esteban Cardeñosa E, Barragán González E, Oltra Soler S, de Juan Jiménez I, Chirivella González I, Segura Huerta A, Guillén Ponce C, de Martínez Dueñas E, Bolufer Gilabert P, Group for Assessment of Hereditary Cancer of Valencia Community (2008) Identification of a novel BRCA1 large genomic rearrangement in a Spanish breast/ovarian cancer family. Breast Cancer Res Treat 112:63–67 Rohlfs EM, Puget N, Graham ML, Weber BL, Garber JE, Skrzynia C, Halperin JL, Lenoir GM, Silverman LM, Mazoyer S (2000) An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10. Genes Chromosomes Cancer 28:300–307 Berry DA, Parmigiani G, Sanchez J, Schildkraut J, Winer E (1997) Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst 89:227–238 Parmigiani G, Berry DA, Aguilar O (1998) Determining carrier probabilities for breast cancer susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 62:145–158 Antoniou AC, Pharoah PP, Smith P, Easton DF (2004) The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer 91:1580–1590 de la Hoya M, Gutiérrez-Enríquez S, Velasco E, Osorio A, de Abajo AS, Vega A, Salazar R, Esteban E, Llort G, Gonzalez-Sarmiento R, Carracedo A, Benitez J, Miner C, Diez O, Diaz-Rubio E, Caldes T (2006) Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer. Clin Chem 52:1480–1485 Gutiérrez-Enríquez S, de la Hoya M, Martínez-Bouzas C, Sanchez de Abajo A, Ramón y Cajal T, Llort G, Blanco I, Beristain E, Díaz-Rubio E, Alonso C, Tejada MI, Caldés T, Diez O (2007) Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer. Breast Cancer Res Treat 103:103–107 Miramar MD, Calvo MT, Rodriguez A, Antón A, Lorente F, Barrio E, Herrero A, Burriel J, García de Jalón A (2008) Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1. Breast Cancer Res Treat 112:353–358 del Valle J, Feliubadaló L, Nadal M, Teulé A, Miró R, Cuesta R, Tornero E, Menéndez M, Darder E, Brunet J, Capellà G, Blanco I, Lázaro C (2010) Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes. Breast Cancer Res Treat 122:733–743 Thomassen M, Gerdes A-M, Cruger D, Jensen PKA, Kruse TA (2006) Low frequency of genomic rearrangements of BRCA1 and BRCA2 in western Denmark. Cancer Gen Cyto Genet 168:168–171 Puget N, Stoppa-Lyonnet D, Sinilnikova OM, Pages S, Lynch HT, Lenoir GM, Mazoyer S (1999) Screening for genomic rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res 59:455–461 Gad S, Caux-Moncoutier V, Pages-Berhouet S, Gauthier-Villars M, Coupier I, Pujol P, Frenay M, Gilbert B, Maugard C, Bignon YJ, Chevrier A, Rossi A, Fricker JP, Nguyen TD, Demange L, Aurias A, Bensimon A, Stoppa-Lyonnet D (2002) Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene 21:6841–6847 Weitzel JN, Lagos VI, Herzog JS, Judkins T, Hendrickson B, Ho JS, Ricker CN, Lowstuter KJ, Blazer KR, Tomlinson G, Scholl T (2007) Evidence for a common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 16:1615–1620 Montagna M, Palma MD, Menin C, Agata S, De Nicolo A, Chieco-Bianchi L, D’Andrea E (2003) Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 12:1055–1061 Teugels E, De Brakeleer S, Goelen G, Lissens W, Sermijn E, De Grève J (2005) De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes. Hum Mutat 26:284 Hendrickson BC, Judkins T, Ward B, Eliason K, Deffenbaugh AE, Burbridge LA, Pyne K, Leclair B, Ward BE, Scholl T (2005) Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families. Genes Chromosomes Cancer 43:309–313 Montagna M, Santacatterina M, Torri A, Menin C, Zullato D, Chieco-Bianchi L, D’Andrea E (1999) Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families. Oncogene 18:4160–4165 Engert S, Wappenscmidt B, Betz B, Kast K, Kutsche M, Hellebrand H, Goecke TO, Kiechle M, Niederacher D, Schmutzler RK, Meindl A (2008) MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early onset cases. Hum Mutat 29:948–958