Mediterranean Founder Mutation Database (MFMD)

References

Aktas D, Gultekin M, Kabacam S, Alikasifoglu M, Turan AT, Tulunay G, Kose MF, Ortac F, Yüce K, Tunçbilek E, Ayhan A, Identification of point mutations and large rearrangements in the BRCA1 gene in 667 Turkish unselected ovarian cancer patients.Gynecol. Oncol.. 2010; 119(1):131-5

Anagnostopoulos T, Pertesi M, Konstantopoulou I, Armaou S, Kamakari S, Nasioulas G, Athanasiou A, Dobrovic A, Young MA, Goldgar D, Fountzilas G, Yannoukakos D, G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history.Breast Cancer Res. Treat.. 2008; 110(2):377-85

Bar-Sade RB, Kruglikova A, Modan B, Gak E, Hirsh-Yechezkel G, Theodor L, Novikov I, Gershoni-Baruch R, Risel S, Papa MZ, Ben-Baruch G, Friedman E, The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim.Hum. Mol. Genet.. 1998; 7(5):801-5

Baudi F, Quaresima B, Grandinetti C, Cuda G, Faniello C, Tassone P, Barbieri V, Bisegna R, Ricevuto E, Conforti S, Viel A, Marchetti P, Ficorella C, Radice P, Costanzo F, Venuta S, Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer.Hum. Mutat.. 2001; 18(2):163-4

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

Calò V, Agnese V, Gargano G, Corsale S, Gregorio V, Cascio S, Cammareri P, Bruno L, Augello C, Gullo A, Sisto PS, Badalamenti G, Valerio MR, Napoli L, Gebbia N, Bazan V, Russo A, A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer.Breast Cancer Res. Treat.. 2006; 96(1):97-100

Cerutti R, Sahnane N, Carnevali I, Furlan D, Tibiletti MG, Chiaravalli AM, Capella C, Identification of the first case of germline duplication of BRCA1 exon 13 in an Italian family.Fam. Cancer. 2010; 9(3):275-82

Díez O, Cortés J, Domènech M, Brunet J, Del Río E, Pericay C, Sanz J, Alonso C, Baiget M, BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families.Int. J. Cancer. 1999; 83(4):465-9

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

Fostira F, Tsitlaidou M, Papadimitriou C, Pertesi M, Timotheadou E, Stavropoulou AV, Glentis S, Bournakis E, Bobos M, Pectasides D, Papakostas P, Pentheroudakis G, Gogas H, Skarlos P, Samantas E, Bafaloukos D, Kosmidis PA, Koutras A, Yannoukakos D, Konstantopoulou I, Fountzilas G, Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study.Breast Cancer Res. Treat.. 2012; 134(1):353-62

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

Koumpis C, Dimitrakakis C, Antsaklis A, Royer R, Zhang S, Narod SA, Kotsopoulos J, Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece.Hered Cancer Clin Pract. 2011; 9(0):10

Laarabi FZ, Jaouad IC, Ouldim K, Aboussair N, Jalil A, Gueddari BE, Benjaafar N, Sefiani A, Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer.Oncol Lett. 2011; 2(2):389-393

Ladopoulou A, Kroupis C, Konstantopoulou I, Ioannidou-Mouzaka L, Schofield AC, Pantazidis A, Armaou S, Tsiagas I, Lianidou E, Efstathiou E, Tsionou C, Panopoulos C, Mihalatos M, Nasioulas G, Skarlos D, Haites NE, Fountzilas G, Pandis N, Yannoukakos D, Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed.Cancer Lett.. 2002; 185(1):61-70

Laraqui A, Uhrhammer N, Lahlou-Amine I, El Rhaffouli H, El Baghdadi J, Dehayni M, Moussaoui RD, Ichou M, Sbitti Y, Al Bouzidi A, Amzazi S, Bignon YJ, Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.Int J Med Sci. 2013; 10(1):60-7

Mahfoudh W, Bouaouina N, Ahmed SB, Gabbouj S, Shan J, Mathew R, Uhrhammer N, Bignon YJ, Troudi W, Elgaaied AB, Hassen E, Chouchane L, Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population.Mol. Biol. Rep.. 2012; 39(2):1037-46

Malacrida S, Agata S, Callegaro M, Casella C, Barana D, Scaini MC, Manoukian S, Oliani C, Radice P, Barile M, Menin C, D'Andrea E, Montagna M, BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy.J. Clin. Oncol.. 2008; 26(1):26-31

Marroni F, Cipollini G, Peissel B, D'Andrea E, Pensabene M, Radice P, Caligo MA, Presciuttini S, Bevilacqua G, Reconstructing the genealogy of a BRCA1 founder mutation by phylogenetic analysis.Ann. Hum. Genet.. 2008; 72(0):310-8

Muller D, Bonaiti-Pellié C, Abecassis J, Stoppa-Lyonnet D, Fricker JP, BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect.Fam. Cancer. 2004; 3(1):15-20

Palanca S, de Juan I, Perez-Simó G, Barragán E, Chirivella I, Martínez E, Fuster O, Bolufer P, The deletion of exons 3-5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families.Fam. Cancer. 2013; 12(1):119-23

Papi L, Putignano AL, Congregati C, Zanna I, Sera F, Morrone D, Falchetti M, Turco MR, Ottini L, Palli D, Genuardi M, Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy.Breast Cancer Res. Treat.. 2009; 117(3):497-504

Pertesi M, Konstantopoulou I, Yannoukakos D, Haplotype analysis of two recurrent genomic rearrangements in the BRCA1 gene suggests they are founder mutations for the Greek population.Clin. Genet.. 2011; 80(4):375-82

Russo A, Calò V, Agnese V, Bruno L, Corsale S, Augello C, Gargano G, Barbera F, Cascio S, Intrivici C, Rinaldi G, Gulotta G, Macaluso M, Surmacz E, Giordano A, Gebbia N, Bazan V, BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses.Breast Cancer Res. Treat.. 2007; 105(3):267-76

Russo A, Calò V, Augello C, Bruno L, Agnese V, Schirò V, Barbera F, Cascio S, Foddai E, Badalamenti G, Intrivici C, Cajozzo M, Gulotta G, Surmacz E, Colucci G, Gebbia N, Bazan V, 4843delC of the BRCA1 gene is a possible founder mutation in Southern Italy (Sicily).Ann. Oncol.. 2007; 18(0):vi99-102

Russo A, Calò V, Bruno L, Schirò V, Agnese V, Cascio S, Foddai E, Fanale D, Rizzo S, Di Gaudio F, Gulotta E, Surmacz E, Di Fede G, Bazan V, Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?Breast Cancer Res. Treat.. 2009; 113(1):67-70

Scumaci D, Tammè L, Fiumara CV, Pappaianni G, Concolino A, Leone E, Faniello MC, Quaresima B, Ricevuto E, Costanzo FS, Cuda G, Plasma Proteomic Profiling in Hereditary Breast Cancer Reveals a BRCA1-Specific Signature: Diagnostic and Functional Implications.PLoS ONE. 2015; 10(6):e0129762

Stavropoulou AV, Fostira F, Pertesi M, Tsitlaidou M, Voutsinas GE, Triantafyllidou O, Bamias A, Dimopoulos MA, Timotheadou E, Pectasides D, Christodoulou C, Klouvas G, Papadimitriou C, Makatsoris T, Pentheroudakis G, Aravantinos G, Karydakis V, Yannoukakos D, Fountzilas G, Konstantopoulou I, Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.PLoS ONE. 2013; 8(3):e58182

Uhrhammer N, Abdelouahab A, Lafarge L, Feillel V, Ben Dib A, Bignon YJ, BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.Int J Med Sci. 2008; 5(4):197-202

Vega A, Campos B, Bressac-De-Paillerets B, Bond PM, Janin N, Douglas FS, Domènech M, Baena M, Pericay C, Alonso C, Carracedo A, Baiget M, Diez O, The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.Hum. Mutat.. 2001; 17(6):520-1

Yazici H, Bitisik O, Akisik E, Cabioglu N, Saip P, Muslumanoglu M, Glendon G, Bengisu E, Ozbilen S, Dincer M, Turkmen S, Andrulis IL, Dalay N, Ozcelik H, BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.Br. J. Cancer. 2000; 83(6):737-42