Mediterranean Founder Mutation Database (MFMD)

References

Besic N, Cernivc B, de Grève J, Lokar K, Krajc M, Novakovic S, Zgajnar J, Teugels E, BRCA2 gene mutations in Slovenian male breast cancer patients.Genet. Test.. 2008; 12(2):203-9

Blay P, Santamaría I, Pitiot AS, Luque M, Alvarado MG, Lastra A, Fernández Y, Paredes A, Freije JM, Balbín M, Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).BMC Cancer. 2013; 13(0):243

Campos B, Díez O, Odefrey F, Domènech M, Moncoutier V, Martínez-Ferrandis JI, Osorio A, Balmaña J, Barroso A, Armengod ME, Benítez J, Alonso C, Stoppa-Lyonnet D, Goldgar D, Baiget M, Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain.Hum. Mutat.. 2003; 21(4):452

Díez O, Osorio A, Durán M, Martinez-Ferrandis JI, de la Hoya M, Salazar R, Vega A, Campos B, Rodríguez-López R, Velasco E, Chaves J, Díaz-Rubio E, Jesús Cruz J, Torres M, Esteban E, Cervantes A, Alonso C, San Román JM, González-Sarmiento R, Miner C, Carracedo A, Eugenia Armengod M, Caldés T, Benítez J, Baiget M, Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.Hum. Mutat.. 2003; 22(4):301-12

Hadjisavvas A, Charalambous E, Adamou A, Neuhausen SL, Christodoulou CG, Kyriacou K, Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.Cancer Genet. Cytogenet.. 2004; 151(2):152-6

Infante M, Durán M, Acedo A, Pérez-Cabornero L, Sanz DJ, García-González M, Beristain E, Esteban-Cardeñosa E, de la Hoya M, Teulé A, Vega A, Tejada MI, Lastra E, Miner C, Velasco EA, BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin.Clin. Genet.. 2010; 77(1):60-9

Infante M, Durán M, Lasa A, Acedo A, de la Hoya M, Esteban-Cardeñosa E, Sanz DJ, Pérez-Cabornero L, Lastra E, Miner C, Velasco EA, Two founder BRCA2 mutations predispose to breast cancer in young women.Breast Cancer Res. Treat.. 2010; 122(2):567-71

Krajc M, De Grève J, Goelen G, Teugels E, BRCA2 founder mutation in Slovenian breast cancer families.Eur. J. Hum. Genet.. 2002; 10(12):879-82

Krajc M, Teugels E, Zgajnar J, Goelen G, Besic N, Novakovic S, Hocevar M, De Grève J, Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.BMC Med. Genet.. 2008; 9(0):83

Loizidou M, Marcou Y, Anastasiadou V, Newbold R, Hadjisavvas A, Kyriacou K, Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus.Clin. Genet.. 2007; 71(2):165-70

Miolo G, Puppa LD, Santarosa M, De Giacomi C, Veronesi A, Bidoli E, Tibiletti MG, Viel A, Dolcetti R, Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.BMC Cancer. 2006; 6(0):156

Monne M, Piras G, Fancello P, Santona MC, Uras A, Landriscina G, Mastio G, Gabbas A, Identification of a founder BRCA2 mutation in Sardinian breast cancer families.Fam. Cancer. 2007; 6(1):73-9

Osorio A, Robledo M, Martínez B, Cebrián A, San Román JM, Albertos J, Lobo F, Benítez J, Molecular analysis of the BRCA2 gene in 16 breast/ovarian cancer Spanish families.Clin. Genet.. 1998; 54(2):142-7

Palomba G, Cossu A, Friedman E, Budroni M, Farris A, Contu A, Pisano M, Baldinu P, Sini MC, Tanda F, Palmieri G, Origin and distribution of the BRCA2-8765delAG mutation in breast cancer.BMC Cancer. 2007; 7(0):132

Palomba G, Loi A, Uras A, Fancello P, Piras G, Gabbas A, Cossu A, Budroni M, Contu A, Tanda F, Farris A, Orrù S, Floris C, Pisano M, Lovicu M, Santona MC, Landriscina G, Crisponi L, Palmieri G, Monne M, A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.BMC Cancer. 2009; 9(0):245

Pisano M, Cossu A, Persico I, Palmieri G, Angius A, Casu G, Palomba G, Sarobba MG, Rocca PC, Dedola MF, Olmeo N, Pasca A, Budroni M, Marras V, Pisano A, Farris A, Massarelli G, Pirastu M, Tanda F, Identification of a founder BRCA2 mutation in Sardinia.Br. J. Cancer. 2000; 82(3):553-9

Ruiz de Garibay G, Gutiérrez-Enríquez S, Garre P, Bonache S, Romero A, Palomo L, Sánchez de Abajo A, Benítez J, Balmaña J, Pérez-Segura P, Díaz-Rubio E, Díez O, Caldés T, de la Hoya M, Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin.Breast Cancer Res. Treat.. 2012; 133(1):273-83