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.

351 entries on 4 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     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 11 c.1067A>G r.(=) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs1799950 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/. 11 c.1067A>G r.(?) p.Gln356Arg - Unknown - NA g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - PubMed: Burk-Herrick 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1067A>G r.(?) p.Gln356Arg - Unknown - NA g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 Prevalence in normal controls; predicted neutral PubMed: Cox 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1067A>G r.(?) p.Gln356Arg - Unknown - NA g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 evolutionary conservation analysis; inconclusive PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1067A>G r.(?) p.Gln356Arg - Unknown - NA g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 evolutionary conservation analysis; predicted neutral PubMed: Greenman 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1067A>G r.(?) p.Gln356Arg - Unknown - NA g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 Allele frequency analysis in controls; predicted deleterious PubMed: Johnson 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1067A>G r.(?) p.Gln356Arg - Unknown - NA g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 evolutionary conservation analysis; predicted neutral PubMed: Lee 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1067A>G r.(?) p.Gln356Arg - Unknown - NA g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 Grantham score; predicted deleterious PubMed: Lee 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1067A>G r.(?) p.Gln356Arg - Unknown - NA g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - PubMed: McKean-Cowdin 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1067A>G r.(?) p.Gln356Arg - Unknown - NA g.41246481T>C g.43094464T>C 1186A/G (Q356R) - BRCA1_000128 - PubMed: Miki 1994 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1067A>G r.(?) p.Gln356Arg - Unknown - NA g.41246481T>C g.43094464T>C 1186A/G (Q356R) - BRCA1_000128 - PubMed: Shattuck-Eidens 1997 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1067A>G r.(?) p.Gln356Arg - Unknown - NA g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 Multifactorial likelihood-ratio model; predicted neutral PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1067A>G r.(?) p.Gln356Arg - Unknown - NA g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 Grantham score; predicted deleterious PubMed: Tommasi 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1067A>G r.(?) p.Gln356Arg - Unknown - NA g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 evolutionary conservation analysis; predicted deleterious PubMed: Tommasi 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - shared by Quest Diagnostics - rs1799950 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown kConFab benign g.41246481T>C g.43094464T>C 1186 A>G (Q356R) - BRCA1_000128 - kConFab variant classification: PM - - Germline - 122/1658 - - - DNA SEQ - - cancer, breast - - 122 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 122 kConFab - Heather Thorne
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina mestizos - - - - 1 Roxana Cerretini
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina mestizos - - - - 1 Roxana Cerretini
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina mestizos - - - - 1 Roxana Cerretini
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C 1067A>G Q356R - BRCA1_000128 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - - Germline - - - - - DNA SEQ - - BROVCA1 - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - no Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - no Argentina European - - - - 1 Roxana Cerretini
?/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Both (homozygous) - VUS g.41246481T>C g.43094464T>C 1186A>G-Gln356Arg (Q356R) - BRCA1_000128 5 families homozygous - - - Germline - - - - - DNA SEQ - - cancer, breast - - >30 families (BRCA1/2 screening) - - Greece - - - - - 35 Florentia Fostira
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown ENIGMA benign g.41246481T>C g.43094464T>C Q356R - BRCA1_000128 - - - rs1799950 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Parent #1 - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.00000000000204. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.05409 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR1204 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR1340 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1515 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1521 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR1528 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR1529 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR1550 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0328 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0331 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0337 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0345 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0347 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0380 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0381 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0385 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0388 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0391 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0395 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0399 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0421 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0433 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0446 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0448 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0451 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0462 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0463 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0470 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0474 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0478 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0497 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0498 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0515 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1067A>G r.(?) p.(Gln356Arg) - Unknown - benign g.41246481T>C g.43094464T>C - - BRCA1_000128 - - - rs1799950 Germline - 183/1900 cases - - - DNA SEQ - - cancer, breast BR0517 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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