Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

BRCA2

Gene name: breast cancer 2, early onset
OMIM ID: 600185
Chromosome location: 13q13.1

Mutations

Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.3381delT
A.A. ChangeStop1150
Exon/Intronexon 11
Mutation Typedeletion
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.517-1G>A
A.A. Change
Exon/Intronintron 6
Mutation Typesubstitution
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.6428C>A
A.A. Changep.Ser2143X
Exon/Intronexon 11
Mutation Typesubstitution
ReferenceGuaoua S, Ratbi I, Lyahyai J, El Alaoui SC, Laarabi FZ, Sefiani A. Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.
Afr Health Sci. 2014 Jun;14(2):468-71.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.7110delA
A.A. ChangeStop2376
Exon/Intronexon 14
Mutation Typedeletion
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.7235insG
A.A. ChangeStop2413
Exon/Intronexon 14
Mutation Typeinsertion
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.

Polymorphisms

Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.-26G>A
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.12
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.67+62T>G
A.A. Change
Exon/Intronintron 2
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.02
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.516+21A>T
A.A. Change
Exon/Intronintron 6
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.01
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.681+56C>T
A.A. Change
Exon/Intronintron 8
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.18
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.865A>C
A.A. ChangeN289H
Exon/Intronexon 10
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.01
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.1114A>C
A.A. ChangeH372N
Exon/Intronexon 10
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.09
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.1365A>G
A.A. ChangeS455S
Exon/Intronexon 10
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.01
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.2229T>C
A.A. ChangeH743H
Exon/Intronexon 11
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.01
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.2971A>G
A.A. ChangeN991D
Exon/Intronexon 11
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.02
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.3396A>G
A.A. ChangeK1132K
Exon/Intronexon 11
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.16
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.3516G>A
A.A. ChangeS1172S
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.01
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.3807C>T
A.A. ChangeV1269V
Exon/Intronexon 11
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.22
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.4563G>A
A.A. ChangeL1521L
Exon/Intronexon 11
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.01
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.6513C>G
A.A. ChangeV2171V
Exon/Intronexon 11
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.01
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.6841+80delTTAA
A.A. Change
Exon/Intronintron 11
Variation Typedeletion
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.11
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.7242A>G
A.A. ChangeS2414S
Exon/Intronexon 14
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.12
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.7806-14T>C
A.A. Change
Exon/Intronintron 16
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.33
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.8488-143G>A
A.A. Change
Exon/Intronintron 19
Variation Typeothers
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.01
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.8735-66T>C
A.A. Change
Exon/Intronintron 21
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.25
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.9257-83G>A
A.A. Change
Exon/Intronintron 24
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.11
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.9648+106delT
A.A. Change
Exon/Intronintron 26
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.01
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 2
Reference transcriptNM_000059.3
DNA Changec.10234A>G
A.A. Change
Exon/Intronexon 27
Variation Typesubstitution
Cases40 patients from 39 families with personal and family history of breast and/or ovarian cancers.
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Minor alle0.09
ReferenceTazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol. 2012 Jun;125(3):687-92.