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.

134 entries on 2 pages. Showing entries 1 - 100.
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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     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast, MD - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast, MD - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Juul Wijnen
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
?/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 - PubMed: Brzovic 2001b - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 Recombination rate; as variant control PubMed: Caligo 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 Clonogenic assay; as wildtype control PubMed: Caligo 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Goldgar 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 Prevalence in normal controls; predicted neutral PubMed: Goldgar 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 - PubMed: Langston 1996 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 - PubMed: Loman 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 E3 Ub-ligase activity assay BRCA1/RING-BARD1; as variant control PubMed: Morris 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 E3 Ub-ligase activity assay BRCA1/RING-BARD1; as variant control PubMed: Morris and Solomon 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 Homology directed recombination; impact on protein function PubMed: Ransbergh 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 protein binding ability BARD1; impact on protein function PubMed: Ransburgh 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 Micronuclei formation; as variant control PubMed: Rothfuss 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 - PubMed: Ruffner 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 Bayesian statistics; predicted deleterious PubMed: Scott 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 - PubMed: Spitzer 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.181T>G r.(?) p.Cys61Gly - Unknown - NA g.41258504A>C g.43106487A>C C61G - BRCA1_000050 Survival assay with HCC1937 (after MMS treatment); as variant control PubMed: Zhong 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown kConFab pathogenic g.41258504A>C g.43106487A>C 300 T>G (C61G) - BRCA1_000050 - kConFab variant classification: P - - Germline - 8/1658 - - - DNA SEQ - - cancer, breast - - 8 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 8 kConFab - Heather Thorne
+?/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - likely pathogenic g.41258504A>C g.43106487A>C 300T>G-Cys61Gly (C61G) - BRCA1_000050 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 19 families (BRCA1/2 screening) - - Greece - - - - - 19 Florentia Fostira
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown ENIGMA pathogenic g.41258504A>C g.43106487A>C C61G - BRCA1_000050 - - - rs28897672 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown ENIGMA pathogenic g.41258504A>C g.43106487A>C C61G - BRCA1_000050 - - - rs28897672 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown ENIGMA pathogenic g.41258504A>C g.43106487A>C C61G - BRCA1_000050 - - - rs28897672 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/+ 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic (dominant) g.41258504A>C g.43106487A>C - - BRCA1_000050 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 5 based on posterior probability = 1 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - rs28897672 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR1063 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - rs28897672 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR1496 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - rs28897672 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR1535 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - rs28897672 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR0481 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Germline - - - - - DNA MIPsm, SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Germline - - - - - DNA MIPsm, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rien Blok
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - - Germline - - - - - DNA SEQ - - cancer, ovarian ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C BRCA1(NM_007294.3):c.181T>G (p.C61G, p.(Cys61Gly)), BRCA1(NM_007294.4):c.181T>G (p.C61G) - BRCA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C BRCA1(NM_007294.3):c.181T>G (p.C61G, p.(Cys61Gly)), BRCA1(NM_007294.4):c.181T>G (p.C61G) - BRCA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C BRCA1(NM_007294.3):c.181T>G (p.C61G, p.(Cys61Gly)), BRCA1(NM_007294.4):c.181T>G (p.C61G) - BRCA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C BRCA1(NM_007294.3):c.181T>G (p.C61G, p.(Cys61Gly)), BRCA1(NM_007294.4):c.181T>G (p.C61G) - BRCA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C BRCA1(NM_007294.3):c.181T>G (p.C61G, p.(Cys61Gly)), BRCA1(NM_007294.4):c.181T>G (p.C61G) - BRCA1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 51 families F - Austria white - - - - 51 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Brazil white - - - - 2 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Canada white - - - - 4 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 20 families F - Czech Republic white - - - - 20 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 24 families F - Denmark white - - - - 24 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - France white - - - - 8 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 12 families F - France unknown - - - - 12 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 34 families F - Germany white - - - - 34 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 171 families F - Germany unknown - - - - 171 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 60 families F - Hungary white - - - - 60 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Israel white - - - - 1 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Israel unknown - - - - 1 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 44 families F - Italy white - - - - 44 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Latvia white - - - - 5 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 22 families F - Lithuania white - - - - 22 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 276 families F - Poland white - - - - 276 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Portugal white - - - - 1 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - Sweden white - - - - 6 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - Sweden unknown - - - - 7 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 13 families F - United Kingdom (Great Britain) white - - - - 13 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - 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
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - United States unknown - - - - 8 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Parent #1 - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 103 families F - United States white - - - - 103 Johan den Dunnen
+/. 5 c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic g.41258504A>C g.43106487A>C - - BRCA1_000050 - - - rs28897672 Germline - 8/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. - c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic (dominant) g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Cherbal 2010 - rs28897672 Germline - - - - - DNA SEQ - - BROVCA 20683152-cas PubMed: Cherbal 2010 family F - Algeria - - - - - 6 Johan den Dunnen
+/. - c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic (dominant) g.41258504A>C g.43106487A>C C61G - BRCA1_000050 - PubMed: Konstantopoulou 20008 - - Germline - 1/127 case families - - - DNA DHPLC, SEQ - - BROVCA 17453335-cas PubMed: Konstantopoulou 20008 cases F - Greece - - - - - 3 Johan den Dunnen
+/. - c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic (dominant) g.41258504A>C g.43106487A>C 300T>G - BRCA1_000050 - PubMed: Laitman 2011 - rs28897672 Germline - - - - - DNA SEQ - - BROVCA 20960228-cas PubMed: Laitman 2011 cases F - Israel non-Jewish - - - - 2 Johan den Dunnen
+/. - c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic (dominant) g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Loizidou 2017 - rs28897672 Germline - 1/68 cases - - - DNA SEQ - - BROVCA 27882536-cas PubMed: Loizidou 2017 cases F - Cyprus - - - - - 1 Johan den Dunnen
+/. - c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic (dominant) g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Dodova 2015, Journal: Laitman 2019 - rs28897672 Germline - - - - - DNA SEQ - - BROVCA 26183948-cas PubMed: Dodova 2015, Journal: Laitman 2019 families F - Bulgaria - - - - - 2 Eitan Friedman
+/. - c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic (dominant) g.41258504A>C g.43106487A>C - - BRCA1_000050 - PubMed: Levant 2012, Journal: Laitman 2019 - rs28897672 Germline - - - - - DNA SEQ - - BROVCA 22366370-cas PubMed: Levant 2012, Journal: Laitman 2019 family F - Croatia (Hrvatska) - - - - - 2 Eitan Friedman
+/. - c.181T>G r.(?) p.(Cys61Gly) - Unknown - pathogenic (dominant) g.41258504A>C g.43106487A>C C61G - BRCA1_000050 - Journal: Laitman 2019 - rs28897672 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Greece - - - - - 1 Eitan Friedman
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