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Last update

21/6/2017

Gene: breast cancer 2, early onset; BRCA2

Gene Symbol: BRCA2
OMIM: 600185
Chromosome location: 13q13.1

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Breast-ovarian cancer, familial, 2 || IVS16-2A>G

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	IVS16-2A>G
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 16
Transcript:	NM_000059.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	18% (10 families/56 families)	NA	Krajc 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
Italy	NA	North-East	2 patients	NA	Miolo 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
Slovenia	NA	NA	3 families/7 unrelated families	NA	Krajc 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
Slovenia	NA	NA	NA	NA	Besic 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

Breast-ovarian cancer, familial, 2 || c.8537_8538delAG (8765delAG)

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	c.8537_8538delAG (8765delAG)
Protein Change:	p.Glu2846Glyfs*22
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 20
Transcript:	NM_000059.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Sardinia	1.7%	NA	Pisano 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

Breast-ovarian cancer, familial, 2 || 936delAAAC

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	936delAAAC
Protein Change:
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:
Transcript:

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	NA	NA	Osorio 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

Breast-ovarian cancer, familial, 2 || Del Exon 2 (g.5670_6155delinsATA)

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	Del Exon 2 (g.5670_6155delinsATA)
Protein Change:
Mutation Type:	Deletion
Mutation Effect:
Location:	exon 2
Transcript:	NG_012772.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	4 families/813 unrelated families	NA	Ruiz 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

Breast-ovarian cancer, familial, 2 || 8984delG

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	8984delG
Protein Change:
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 22
Transcript:	NM_000059.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Cyprus	NA	NA	3 families/40 families	NA	Hadjisavvas 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

Breast-ovarian cancer, familial, 2 || c.6629_6630delAA (6857_6858delAA)

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	c.6629_6630delAA (6857_6858delAA)
Protein Change:	p.Glu2210GlyfsX14
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 11
Transcript:	NM_000059.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	Northeastern (Catalonia)	3 families	NA	Díez 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

Breast-ovarian cancer, familial, 2 || c.9026_9030delATCAT (9254_9258delATCAT)

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	c.9026_9030delATCAT (9254_9258delATCAT)
Protein Change:	p.Tyr3009SerfsX7
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 23
Transcript:	NM_000059.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	Northeastern (Catalonia)	9 families	NA	Díez 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
Spain	NA	Northeast	11 families/12 families	92 generations	Campos 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

Breast-ovarian cancer, familial, 2 || c.4030_4035delinsC

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	c.4030_4035delinsC
Protein Change:	p.Asn1344HisfsX6
Mutation Type:	Indel
Mutation Effect:	Frameshift
Location:	exon 11
Transcript:	NM_000059.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	Northern (Asturias)	6 families	NA	Blay 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

Breast-ovarian cancer, familial, 2 || c.5116_5119delAATA (5344delAATA)

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	c.5116_5119delAATA (5344delAATA)
Protein Change:	p.Asn1706LeufsX5
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 11
Transcript:	NM_000059.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	6 families/11 families	NA	Infante 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

Breast-ovarian cancer, familial, 2 || c.9310_9311delAA (9538delAA)

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	c.9310_9311delAA (9538delAA)
Protein Change:	p.Lys3104ValfsX6
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 12
Transcript:	NM_000059.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	5 families/11 families	NA	Infante 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

Breast-ovarian cancer, familial, 2 || c.5146_5149delTATG (5374delTATG)

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	c.5146_5149delTATG (5374delTATG)
Protein Change:	p.Tyr1716LysfsX8
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 11
Transcript:	NM_000059.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	13.6%	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

Breast-ovarian cancer, familial, 2 || c.8764_8765delAG

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	c.8764_8765delAG
Protein Change:	p.Ser2922x
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 22
Transcript:	NM_000059.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Sardinia	13 families/ 348 families	NA	Palomba 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
Italy	NA	North Sardinia	1.4% (9 patients/648 patients)	NA	Palomba 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

Breast-ovarian cancer, familial, 2 || c.3950_3952delTAGinsAT

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	c.3950_3952delTAGinsAT
Protein Change:	p.Phe1241fsX17
Mutation Type:	Substitution
Mutation Effect:	Frameshift
Location:	exon 11
Transcript:

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Sardinia	7 families/ 348 families	NA	Palomba 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

Breast-ovarian cancer, familial, 2 || c.8755delG

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	c.8755delG
Protein Change:	p.Gly2919Valfs*8
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 22
Transcript:	NM_000059.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Cyprus	NA	NA	3 patients/ 3 unrelated families	NA	Loizidou 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

Breast-ovarian cancer, familial, 2 || 3951del3insAT

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	3951del3insAT
Protein Change:
Mutation Type:	Indel
Mutation Effect:	Frameshift
Location:	exon 11
Transcript:	U43746

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Sardinia	6 patients/ 36 patients	NA	Monne 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

Breast-ovarian cancer, familial, 2 || 9106C>T

Phenotype:	Breast-ovarian cancer, familial, 2
Dna Change:	9106C>T
Protein Change:	Q2960X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 22
Transcript:	NM_000059.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	North-East	2 patients	NA	Miolo 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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: breast cancer 2, early onset; BRCA2

References