Phenotype: Breast-ovarian cancer, familial, 2


OMIM: 612555
Inheritance: Multiple
Classification: Neoplasms

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

BRCA2 || IVS16-2A>G

Gene/Locus:    BRCA2
Dna Change:    IVS16-2A>G
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:    Splice site
Location:    intron 16
Transcript:    NM_000059.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA18% (10 families/56 families)NAKrajc M et al., 2008Krajc 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
ItalyNANorth-East2 patientsNAMiolo G et al., 2006Miolo 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
SloveniaNANA3 families/7 unrelated familiesNAKrajc M et al., 2002Krajc 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
SloveniaNANANANABesic N et al., 2008Besic 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

BRCA2 || c.8537_8538delAG (8765delAG)

Gene/Locus:    BRCA2
Dna Change:    c.8537_8538delAG (8765delAG)
Protein Change:    p.Glu2846Glyfs*22
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 20
Transcript:    NM_000059.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNASardinia1.7%NAPisano M et al., 2000Pisano 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

BRCA2 || 936delAAAC

Gene/Locus:    BRCA2
Dna Change:    936delAAAC
Protein Change:   
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:   
Transcript:   

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANANANAOsorio A et al., 1998Osorio 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

BRCA2 || Del Exon 2 (g.5670_6155delinsATA)

Gene/Locus:    BRCA2
Dna Change:    Del Exon 2 (g.5670_6155delinsATA)
Protein Change:   
Mutation Type:    Deletion
Mutation Effect:   
Location:    exon 2
Transcript:    NG_012772.1

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANA4 families/813 unrelated familiesNARuiz de Garibay G et al., 2012Ruiz 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

BRCA2 || 8984delG

Gene/Locus:    BRCA2
Dna Change:    8984delG
Protein Change:   
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 22
Transcript:    NM_000059.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
CyprusNANA3 families/40 familiesNAHadjisavvas A et al., 2004Hadjisavvas 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

BRCA2 || c.6629_6630delAA (6857_6858delAA)

Gene/Locus:    BRCA2
Dna Change:    c.6629_6630delAA (6857_6858delAA)
Protein Change:    p.Glu2210GlyfsX14
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 11
Transcript:    NM_000059.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANortheastern (Catalonia)3 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

BRCA2 || c.9026_9030delATCAT (9254_9258delATCAT)

Gene/Locus:    BRCA2
Dna Change:    c.9026_9030delATCAT (9254_9258delATCAT)
Protein Change:    p.Tyr3009SerfsX7
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 23
Transcript:    NM_000059.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANortheastern (Catalonia)9 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
SpainNANortheast11 families/12 families92 generationsCampos B et al., 2003Campos 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

BRCA2 || c.4030_4035delinsC

Gene/Locus:    BRCA2
Dna Change:    c.4030_4035delinsC
Protein Change:    p.Asn1344HisfsX6
Mutation Type:    Indel
Mutation Effect:    Frameshift
Location:    exon 11
Transcript:    NM_000059.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANorthern (Asturias)6 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

BRCA2 || c.5116_5119delAATA (5344delAATA)

Gene/Locus:    BRCA2
Dna Change:    c.5116_5119delAATA (5344delAATA)
Protein Change:    p.Asn1706LeufsX5
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 11
Transcript:    NM_000059.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANA6 families/11 familiesNAInfante M et al., 2010Infante 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

BRCA2 || c.9310_9311delAA (9538delAA)

Gene/Locus:    BRCA2
Dna Change:    c.9310_9311delAA (9538delAA)
Protein Change:    p.Lys3104ValfsX6
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 12
Transcript:    NM_000059.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANA5 families/11 familiesNAInfante M et al., 2010Infante 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

BRCA2 || c.5146_5149delTATG (5374delTATG)

Gene/Locus:    BRCA2
Dna Change:    c.5146_5149delTATG (5374delTATG)
Protein Change:    p.Tyr1716LysfsX8
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 11
Transcript:    NM_000059.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANA13.6%1200 years ago (48 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

BRCA2 || c.8764_8765delAG

Gene/Locus:    BRCA2
Dna Change:    c.8764_8765delAG
Protein Change:    p.Ser2922x
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 22
Transcript:    NM_000059.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNASardinia13 families/ 348 familiesNAPalomba G et al., 2009Palomba 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
ItalyNANorth Sardinia1.4% (9 patients/648 patients)NAPalomba G et al., 2007Palomba 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

BRCA2 || c.3950_3952delTAGinsAT

Gene/Locus:    BRCA2
Dna Change:    c.3950_3952delTAGinsAT
Protein Change:    p.Phe1241fsX17
Mutation Type:    Substitution
Mutation Effect:    Frameshift
Location:    exon 11
Transcript:   

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNASardinia7 families/ 348 familiesNAPalomba G et al., 2009Palomba 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

BRCA2 || c.8755delG

Gene/Locus:    BRCA2
Dna Change:    c.8755delG
Protein Change:    p.Gly2919Valfs*8
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 22
Transcript:    NM_000059.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
CyprusNANA3 patients/ 3 unrelated familiesNALoizidou M et al., 2007Loizidou 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

BRCA2 || 3951del3insAT

Gene/Locus:    BRCA2
Dna Change:    3951del3insAT
Protein Change:   
Mutation Type:    Indel
Mutation Effect:    Frameshift
Location:    exon 11
Transcript:    U43746

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNASardinia6 patients/ 36 patientsNAMonne M et al., 2007Monne 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

BRCA2 || 9106C>T

Gene/Locus:    BRCA2
Dna Change:    9106C>T
Protein Change:    Q2960X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 22
Transcript:    NM_000059.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANorth-East2 patientsNAMiolo G et al., 2006Miolo 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

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