Phenotype: Breast-ovarian cancer, familial, 1


OMIM: 604370
Inheritance: Multiple
Classification: Neoplasms

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

BRCA1 || c.798_799delTT

Gene/Locus:    BRCA1
Dna Change:    c.798_799delTT
Protein Change:    p.Ser267Lysfs*19
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 10
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
AlgeriaNANA2 familiesNAUhrhammer N et al., 2008Uhrhammer 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
MoroccoNANA2 patients/121 patientsNALaraqui A et al., 2013Laraqui 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
TunisiaNANA18%NAMahfoudh W et al., 2012Mahfoudh 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
TunisiaNANA2 familiesNAUhrhammer N et al., 2008Uhrhammer 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

BRCA1 || c.5266dupC (5382insC)

Gene/Locus:    BRCA1
Dna Change:    c.5266dupC (5382insC)
Protein Change:    p.Gln1756ProfsX74
Mutation Type:    Insertion
Mutation Effect:    Nonsense
Location:    exon 20
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
GreeceNANA45%NALadopoulou A et al., 2002Ladopoulou 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
GreeceNANA11 patients/403 patientsNAFostira F et al., 2012Fostira 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
GreeceNANANANAStavropoulou AV et al., 2013Stavropoulou 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
TurkeyNANANANAYazici H et al., 2000Yazici 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
TurkeyNANA2 patients/667 patientsNAAktas D et al., 2010Aktas 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

BRCA1 || 5083del19

Gene/Locus:    BRCA1
Dna Change:    5083del19
Protein Change:   
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 16
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNACalabria33% of the overall gene mutationsNABaudi F et al., 2001Baudi 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
ItalyNASicilyNANARusso A et al., 2009Russo 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
ItalyNANANANAScumaci D et al., 2015Scumaci 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

BRCA1 || c.211A>G

Gene/Locus:    BRCA1
Dna Change:    c.211A>G
Protein Change:    p.Arg71Gly
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 3
Transcript:    NM_007298.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANANANAVega A et al., 2001Vega 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
SpainNANANANAVega A et al., 2001Vega 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

BRCA1 || c.68_69delAG (185delAG)

Gene/Locus:    BRCA1
Dna Change:    c.68_69delAG (185delAG)
Protein Change:    p.Glu23Valfs*17
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 2
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
MoroccoJewsNA1.1%NABar-Sade RB et al., 1998Bar-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
MoroccoNANA2 families/3 unrelated familiesNALaarabi FZ et al., 2011Laarabi 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
SpainNANA2 families/83 familiesNADíez O et al., 1999Díez 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

BRCA1 || c.5212G>A (5331G>A)

Gene/Locus:    BRCA1
Dna Change:    c.5212G>A (5331G>A)
Protein Change:    p.Gly1738Arg
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 20
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
GreeceNANA11 patients/403 patientsNAFostira F et al., 2012Fostira 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
GreeceNANANANAKoumpis C et al., 2011Koumpis 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
GreeceNANANA275 years ago (11 generations)Anagnostopoulos T et al., 2008Anagnostopoulos 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
GreeceNANANANAStavropoulou AV et al., 2013Stavropoulou 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

BRCA1 || c.5256_5277+3179del3200

Gene/Locus:    BRCA1
Dna Change:    c.5256_5277+3179del3200
Protein Change:   
Mutation Type:   
Mutation Effect:   
Location:    exon 20
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
GreeceNANA2 patients/403 patientsNAFostira F et al., 2012Fostira 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
GreeceNANA8 patients /7 familiesNAPertesi M et al., 2011Pertesi 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

BRCA1 || g.169527_180579del11052

Gene/Locus:    BRCA1
Dna Change:    g.169527_180579del11052
Protein Change:   
Mutation Type:   
Mutation Effect:   
Location:    exon 23
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
GreeceNANA6 patients/403 patientsNAFostira F et al., 2012Fostira 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

BRCA1 || c.5468-285_ 5592+4019del4429_insCACAG

Gene/Locus:    BRCA1
Dna Change:    c.5468-285_ 5592+4019del4429_insCACAG
Protein Change:   
Mutation Type:   
Mutation Effect:   
Location:    exon 24
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
GreeceNANA7 patients/403 patientsNAFostira F et al., 2012Fostira 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
GreeceNANA17 patients /13 familiesNAPertesi M et al., 2011Pertesi 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

BRCA1 || c.5128G>T

Gene/Locus:    BRCA1
Dna Change:    c.5128G>T
Protein Change:    p.Gly1710X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 17
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
FranceNANortheastern15% of all mutationsNAMuller D et al., 2004Muller 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

BRCA1 || 3600del11

Gene/Locus:    BRCA1
Dna Change:    3600del11
Protein Change:   
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 11
Transcript:    NM_007298.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
FranceNANortheastern37% of all mutationsNAMuller D et al., 2004Muller 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

BRCA1 || 330A>G

Gene/Locus:    BRCA1
Dna Change:    330A>G
Protein Change:    p.C64X
Mutation Type:    Substitution
Mutation Effect:    Splice site
Location:   
Transcript:   

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANorthwest (Galicia)7 familiesNADíez O et al., 2003Díez 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

BRCA1 || c.3228_3229delAG

Gene/Locus:    BRCA1
Dna Change:    c.3228_3229delAG
Protein Change:    p.Gly1077AlafsX8
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 10
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNACentral-Eastern part of Tuscany9 families129 generations agoPapi L et al., 2009Papi 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

BRCA1 || c.1499_1500insA (1499insA)

Gene/Locus:    BRCA1
Dna Change:    c.1499_1500insA (1499insA)
Protein Change:    p.Asn500LysfsX2
Mutation Type:    Insertion
Mutation Effect:    Frameshift
Location:    exon 10
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNATuscany28 patients/14 unrelated families750 years ago (30 generations)Marroni F et al., 2008Marroni 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

BRCA1 || c.5062_5064delGTT (c.5181_5183delGTT)

Gene/Locus:    BRCA1
Dna Change:    c.5062_5064delGTT (c.5181_5183delGTT)
Protein Change:    p.Val1688del
Mutation Type:    Deletion
Mutation Effect:   
Location:    exon 16
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANortheastNANAMalacrida S et al., 2008Malacrida 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

BRCA1 || c.4724delC (4843delC)

Gene/Locus:    BRCA1
Dna Change:    c.4724delC (4843delC)
Protein Change:    p.Pro1575LeufsX26
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 15
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNASicily2 familiesNARusso A et al., 2007Russo 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
SpainNASicily1 familyNACalò V et al., 2006Calò 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

BRCA1 || c.2900_2901dupCT

Gene/Locus:    BRCA1
Dna Change:    c.2900_2901dupCT
Protein Change:    p.Pro968LeufsX33
Mutation Type:    Duplication
Mutation Effect:    Frameshift
Location:    exon 10
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANorthern (Asturias)8 familiesNABlay P et al., 2013Blay 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

BRCA1 || g.8097_22733del14637

Gene/Locus:    BRCA1
Dna Change:    g.8097_22733del14637
Protein Change:   
Mutation Type:    Deletion
Mutation Effect:   
Location:    exons 3-5
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANA11 patients/18 patientsNAPalanca S et al., 2013Palanca 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

BRCA1 || 16-KB INS, EX13 (6 kb duplication of exon 13)

Gene/Locus:    BRCA1
Dna Change:    16-KB INS, EX13 (6 kb duplication of exon 13)
Protein Change:   
Mutation Type:    Duplication
Mutation Effect:    Frameshift
Location:    exon 13
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA1 familyNACerutti R et al., 2010Cerutti 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

BRCA1 || c.5153-1G>A (5272-1G>A)

Gene/Locus:    BRCA1
Dna Change:    c.5153-1G>A (5272-1G>A)
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:    Splice site
Location:    intron 17
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANA18.4%380 years ago (15 generations)Infante M et al., 2010Infante 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

BRCA1 || c.4724delC

Gene/Locus:    BRCA1
Dna Change:    c.4724delC
Protein Change:    p.Pro1575Leufs*26
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 15
Transcript:    NM_007294.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNASicily2 families/106 unrelated familiesNARusso A et al., 2007Russo 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

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

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