Full data view for gene BRCA1

All records describing functional studies of specific variants. BRCA1 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_007294.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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Age at death     

VIP     

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Owner     
+/+ 11 c.4065_4068del r.(?) p.(Asn1355fs) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.4065_4068del r.(?) p.(Asn1355fs) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.4065_4068del r.(?) p.(Asn1355fs) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.4065_4068del r.(?) p.(Asn1355fs) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.4065_4068del r.(?) p.(Asn1355fs) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.4065_4068del r.(?) p.(Asn1355fs) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.4065_4068del r.(?) p.(Asn1355fs) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 11 c.4065_4068del r.(?) p.Asn1355fs - Unknown - NA g.41243482_41243485del g.43091465_43091468del 4184del4 - BRCA1_000288 - PubMed: Langston 1996 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.4065_4068del r.(?) p.Asn1355fs - Unknown - NA g.41243482_41243485del g.43091465_43091468del 4184del4 - BRCA1_000288 - PubMed: Spitzer 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - - - rs80357508 Germline - - - - - DNA MLPA, SEQ, TaqMan Blood - cancer, ovarian - - - F - Norway white - - - - 1 Bjørn Ivar Haukanes
+/+ 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown kConFab pathogenic g.41243482_41243485del g.43091465_43091468del 4184_4187 del TCAA (STOP 1364) - BRCA1_000288 - kConFab variant classification: P - - Germline - 13/1658 - - - DNA SEQ - - cancer, breast - - 13 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 13 kConFab - Heather Thorne
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands Turkish - - - - 1 Rien Blok
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del 4184del4 - BRCA1_000288 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 2 families (BRCA1/2 screening) - - Greece - - - - - 2 Florentia Fostira
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del 4184del4 - BRCA1_000288 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Armenia - - - - - 1 Florentia Fostira
+/+ 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del BRCA1(NM_007294.3):c.4065_4068delTCAA (p.Asn1355Lysfs*10), BRCA1(NM_007294.3):c.4065_4068delTCAA (p.N1355Kfs*10), BRCA1(NM_007294.4):c.4065_4068del... - BRCA1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del BRCA1(NM_007294.3):c.4065_4068delTCAA (p.Asn1355Lysfs*10), BRCA1(NM_007294.3):c.4065_4068delTCAA (p.N1355Kfs*10), BRCA1(NM_007294.4):c.4065_4068del... - BRCA1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del BRCA1(NM_007294.3):c.4065_4068delTCAA (p.Asn1355Lysfs*10), BRCA1(NM_007294.3):c.4065_4068delTCAA (p.N1355Kfs*10), BRCA1(NM_007294.4):c.4065_4068del... - BRCA1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del BRCA1(NM_007294.3):c.4065_4068delTCAA (p.Asn1355Lysfs*10), BRCA1(NM_007294.3):c.4065_4068delTCAA (p.N1355Kfs*10), BRCA1(NM_007294.4):c.4065_4068del... - BRCA1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - PubMed: Arai 2018, Journal: Arai 2018 - - Germline - - - - - DNA SEQ-NG - - BROVCA 29176636-Pat PubMed: Arai 2018, Journal: Arai 2018 analysis 860 breast/ovarian cancer pedigrees - - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Austria white - - - - 3 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada unknown - - - - 1 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Canada white - - - - 3 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Denmark white - - - - 3 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 10 families F - France white - - - - 10 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 23 families F - France unknown - - - - 23 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - Germany white - - - - 8 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 24 families F - Germany unknown - - - - 24 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Hong Kong Asian - - - - 2 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Hungary white - - - - 1 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Italy white - - - - 1 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Korea Asian - - - - 1 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Nigeria unknown - - - - 1 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Pakistan Asian - - - - 1 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Spain white - - - - 2 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Sweden white - - - - 3 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Sweden unknown - - - - 4 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United Kingdom (Great Britain) Asian - - - - 1 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United Kingdom (Great Britain) unknown - - - - 4 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 101 families F - United Kingdom (Great Britain) white - - - - 101 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Asian - - - - 1 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States Hispanic - - - - 3 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United States African American - - - - 4 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United States unknown - - - - 4 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 47 families F - United States white - - - - 47 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - - - rs80357508 Germline - 1/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. - c.4065_4068del r.(?) p.Asn1355Lysfs*10 - Unknown ACMG pathogenic g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 BC bilateral at age 52y, granmother paternal side BC 30; cousin paternal side BC at age 55y, - - rs80357508 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown - pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del 4184delTCAA - BRCA1_000288 - PubMed: Al-Mulla 2009 - rs80357508 Germline - - - - - DNA SEQ - - BROVCA 19329713-cas PubMed: Al-Mulla 2009 cases F - Kuwait - - - - - 29 Johan den Dunnen
+/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown - pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Henouda 2016, Journal: Laitman 2019 - rs80357508 Germline - - - - - DNA SEQ - - BROVCA 26997744-cas PubMed: Henouda 2016, Journal: Laitman 2019 family F - Algeria - - - - - 1 Eitan Friedman
+/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown - pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del 4184del4 - BRCA1_000288 - Journal: Laitman 2019 - rs80357508 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Greece - - - - - 1 Eitan Friedman
+/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown - pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del 4184del4 - BRCA1_000288 - Journal: Laitman 2019 - rs80357508 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Israel - - - - - 1 Eitan Friedman
+/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown - pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - PubMed: Abulkhair 2018, Journal: Laitman 2019 - rs80357508 Germline - - - - - DNA SEQ - - BROVCA 30199306-cas PubMed: Abulkhair 2018, Journal: Laitman 2019 cases F - Saudi Arabia Arab - - - - 1 Eitan Friedman
+/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown - pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - PubMed: Bu 2016, Journal: Laitman 2019 - rs80357508 Germline - - - - - DNA SEQ - - BROVCA 27082205-cas PubMed: Bu 2016, Journal: Laitman 2019 cases F - Saudi Arabia Arab - - - - 2 Eitan Friedman
?/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - VUS g.41243482_41243485del g.43091465_43091468del 4063_4066delAATC - BRCA1_000288 - PubMed: Bhaskaran 2019 - (refs 86) - - Germline - 1/133 cases - - - DNA SEQ-NG, SEQ - - cancer, breast BRCA1-var383 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
+/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic g.41243482_41243485del g.43091465_43091468del 4065_4068del, 4184delTCAA - BRCA1_000288 - PubMed: Bhaskaran 2019 - (refs 54, 61, 62, 65, 74, 79, 80, 85, 86, 87, 88, 89, 90) - rs80357508 Germline - 19/14928 cases - - - DNA SEQ-NG, SEQ, DHPLC - - cancer, breast BRCA1-var384 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 19 Johan den Dunnen
+/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown - pathogenic g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 17 families with BRCA1/BRCA2 variant carriers F - France - - - - - 17 Johan den Dunnen
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown - pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del 4063_4066delAATC - BRCA1_000288 - Journal: Gao 2020 as reported in: PubMed: Cao 2016, Journal: Cao 2016 - - Germline - 1 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Cao 2016, Journal: Cao 2016 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Unknown - pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - Journal: Gao 2020 as reported in: Wei 2017, PubMed: Kwong 2012, Journal: Kwong 2012, PubMed: Cao 2013, Journal: Cao 2013, PubMed: Wang 2015, Journal: Wang 2015, PubMed: Cao 2016, Journal: Cao 2016, PubMed: Kwong 2016, Journal: Kwong 2016, PubMed: Shi 2017, Journal: Shi 2017, PubMed: Sun 2017, Journal: Sun 2017, PubMed: Wu 2017, Journal: Wu 2017, PubMed: Li 2017, Journal: Li 2017, PubMed: Lang 2017, Journal: Lang 2017 - - Germline - 21 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: Wei 2017, PubMed: Kwong 2012, Journal: Kwong 2012, PubMed: Cao 2013, Journal: Cao 2013, PubMed: Wang 2015, Journal: Wang 2015, PubMed: Cao 2016, Journal: Cao 2016, PubMed: Kwong 2016, Journal: Kwong 2016, PubMed: Shi 2017, Journal: Shi 2017, PubMed: Sun 2017, Journal: Sun 2017, PubMed: Wu 2017, Journal: Wu 2017, PubMed: Li 2017, Journal: Li 2017, PubMed: Lang 2017, Journal: Lang 2017 breast/ovarian cancer families/patients - - China - - - - - 21 Xianqi Gao
?/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - VUS g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 classified as class 3, 4 or 5 in 249/12850 targeted tests and 126/25800 full screen tests: PHE release 2 BRCA germline variants (June 19, 2019). Entry from British diagnostic laboratories uploaded via Public Health England. Where benign/likely benign variants were excluded. Currently variants are classified as either "3, 4 or 5" or "1, 2, 3, 4 or 5". UK Variant Sharing Initiative - - CLASSIFICATION record - 375 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 375 UK Variant Sharing Initiative
+/. 11 c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Santonocito 2020 - rs80357508 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
?/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - NA g.41243482_41243485del - chr17_41243479_CTTGA_C - BRCA1_000288 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 14/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 14 BRIDGES consortium
?/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Parent #1 - NA g.41243482_41243485del - chr17_41243479_CTTGA_C - BRCA1_000288 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 8/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 8 BRIDGES consortium
+/. - c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Parent #1 ACMG pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat3 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Parent #1 ACMG pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat4 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Parent #1 ACMG pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat27 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Parent #1 ACMG pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat48 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Parent #1 ACMG pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat53 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Parent #1 ACMG pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat55 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Parent #1 ACMG pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat62 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Parent #1 ACMG pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del - - BRCA1_000288 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat80 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.4065_4068del r.(?) p.(Asn1355LysfsTer10) - Unknown - pathogenic g.41243482_41243485del - BRCA1(NM_007294.3):c.4065_4068delTCAA (p.Asn1355Lysfs*10), BRCA1(NM_007294.3):c.4065_4068delTCAA (p.N1355Kfs*10), BRCA1(NM_007294.4):c.4065_4068del... - BRCA1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Maternal (inferred) - pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - PubMed: Kwong 2021 - - Germline - - - - - DNA RT-PCR, SEQ - - BROVCA FamPatII1 PubMed: Kwong 2021 2-generation family, 3 affected (3F) F no China - - - - - 3 Johan den Dunnen
+/. - c.4065_4068del r.(?) p.(Asn1355Lysfs*10) - Maternal (inferred) - pathogenic (dominant) g.41243482_41243485del g.43091465_43091468del 4065_4068delTCAA - BRCA1_000288 - PubMed: Kwong 2021 - - Germline yes - - - - DNA SEQ - - BROVCA FamPatII3 PubMed: Kwong 2021 sister F - China - - - - - 1 Johan den Dunnen
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