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

BRCA1

Gene name: breast cancer 1, early onset
OMIM ID: 113705
Chromosome location: 17q21.31

Mutations

Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 1
Reference transcriptNM_007294.3
DNA Changec.1016dupA
A.A. ChangeVal340LysfsX6
Exon/Intronexon 11
Mutation Typeduplication
ReferenceLaraqui 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.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 1
Reference transcriptNM_007294.3
DNA Changec.1067A>G
A.A. Changep.Gln356Arg
Exon/Intronexon 11b
Mutation Typesubstitution
ReferenceTazzite A, Nadiffi S, Kottwitz D, El Amrani M, Jouhadi H, Benider A, Moumen A, Sefrioui H.Specific BRCA1 gene variations amongst young Moroccan breast cancer patients.
Genet Mol Res. 2014 Jan 31;13(1):791-8.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 1
Reference transcriptNM_007294.3
DNA Changec.181T>G
A.A. ChangeC61G
Exon/Intronexon 5
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, 1
Reference transcriptNM_007294.3
DNA Changec.196A>T
A.A. Changep.Asn66Tyr
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceLaraqui 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.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 1
Reference transcriptNM_007294.3
DNA Changec.2805delA
A.A. ChangeStop999
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, 1
Reference transcriptNM_007294.3
DNA Changec.3279delC
A.A. ChangeStop1108
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, 1
Reference transcriptNM_007294.3
DNA Changec.4942A>T
A.A. Changep.Lys1648X
Exon/Intronexon 16
Mutation Typesubstitution
ReferenceLaraqui 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.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 1
Reference transcriptNM_007294.3
DNA Changec.5062_5064delGTT
A.A. ChangeV1688del
Exon/Intronexon 17
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, 1
Reference transcriptNM_007294.3
DNA Changec.5095C>T
A.A. Changep.Arg1699Trp
Exon/Intronexon 18
Mutation Typesubstitution
ReferenceLaraqui 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.
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 1
Reference transcriptNM_007294.3
DNA Changec.5117G>C
A.A. Changep.Gly1706Ala
Exon/Intronexon 17
Mutation Typesubstitution
ReferenceLaraqui 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.
Disease/PhenotypeBreast cancer, susceptibility to
Reference transcriptNM_007294.3
DNA Changec.5309G>T
A.A. Changep.Gly1770Val
Exon/Intronexon 20
Mutation Typesubstitution
ReferenceQuiles F, Teulé Ŕ, Martinussen Tandstad N, Feliubadaló L, Tornero E, Del Valle J, Menéndez M, Salinas M, Wethe Rognlien V, Velasco A, Izquierdo A, Capellá G, Brunet J, Lázaro C. Identification of a founder BRCA1 mutation in the Moroccan population.
Clin Genet. 2016 Feb 10. doi: 10.1111/cge.12747. [Epub ahead of print]
Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 1
Reference transcriptNM_007294.3
DNA Changec.798_799delTT
A.A. Changep.Ser267LysfsX19
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.

Polymorphisms

Disease/PhenotypeBreast-ovarian cancer, familial, susceptibility to, 1
Reference transcriptNM_007294.3
DNA Changec.442-34C>T
A.A. Change
Exon/IntronIntron 7
Variation Typesubstitution
Cases 40 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 alle0.23
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, 1
Reference transcriptNM_007294.3
DNA Changec.425C>A
A.A. ChangeP142H
Exon/Intronexon 7
Variation Typesubstitution
Cases 40 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, 1
Reference transcriptNM_007294.3
DNA Changec.548-58delT
A.A. Change
Exon/Intronintron 8
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 alle0.22
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, 1
Reference transcriptNM_007294.3
DNA Changec.594-67G>T
A.A. Change
Exon/Intronintron 9
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, 1
Reference transcriptNM_007294.3
DNA Changec.981A>G
A.A. ChangeT327T
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, 1
Reference transcriptNM_007294.3
DNA Changec.1067A>G
A.A. ChangeQ356R
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 alle0.04
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, 1
Reference transcriptNM_007294.3
DNA Changec.1846delTCT
A.A. ChangeS616del
Exon/Intronexon 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 alle0.01
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, 1
Reference transcriptNM_007294.3
DNA Changec.2077G>A
A.A. ChangeD693N
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 alle0.05
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, 1
Reference transcriptNM_007294.3
DNA Changec.2082C>T
A.A. ChangeS694S
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 alle0.25
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, 1
Reference transcriptNM_007294.3
DNA Changec.2311T>C
A.A. ChangeL771L
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 alle0.25
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, 1
Reference transcriptNM_007294.3
DNA Changec.2412G>C
A.A. ChangeQ804H
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, 1
Reference transcriptNM_007294.3
DNA Changec.2612C>T
A.A. ChangeP871L
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 alle0.44
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, 1
Reference transcriptNM_007294.3
DNA Changec.2733A>G
A.A. ChangeG911G
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, 1
Reference transcriptNM_007294.3
DNA Changec.3113A>G
A.A. ChangeE1038G
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, 1
Reference transcriptNM_007294.3
DNA Changec.3418A>G
A.A. ChangeS1140G
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, 1
Reference transcriptNM_007294.3
DNA Changec.3548A>G
A.A. ChangeK1183R
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 alle0.24
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, 1
Reference transcriptNM_007294.3
DNA Changec.4308T>C
A.A. ChangeS1436S
Exon/Intronexon 13A
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, 1
Reference transcriptNM_007294.3
DNA Changec.4485-63C>G
A.A. Change
Exon/Intronintron 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 alle0.13
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, 1
Reference transcriptNM_007294.3
DNA Changec.4837A>G
A.A. ChangeS1613G
Exon/Intronexon 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 alle0.22
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, 1
Reference transcriptNM_007294.3
DNA Changec.4956G>A
A.A. ChangeM1652I
Exon/Intronexon 16
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, 1
Reference transcriptNM_007294.3
DNA Changec.5152+66G>A
A.A. Change
Exon/Intronintron 18
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.