Description:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
BREAST CANCER 2, EARLY-ONSET; BRCA2
BREAST CANCER INFORMATION CORE (BIC) BRCA1/BRCA2 MUTATION PANEL DNA SAMPLES
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Heritable Cancer Syndromes and other Cancers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
BRCA2 |
| Chromosomal Location |
13q13.1 |
| Allelic Variant 1 |
Y42C; BREAST CANCER 2, EARLY-ONSET |
| Identified Mutation |
TYR42CYS |
| Remarks |
Infiltrating ductal carcinoma of right breast; scirrhous adenocarcinoma of left breast; family history: sister with bilateral breast cancer, sister with leukemia and colon cancer, sister with breast and stomach cancer; a missense mutation (353A>G) in the BRCA2 gene is in exon 3 results in a substitution in codon 42 (Y42C, Tyr42Cys) - this mutation is considered as neutral or benign according to ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/variation/37734/) and PMID 15290653. |
| Loke J, Alim I, Yam S, Klugman S, Xia LC, Gruber D, Tegay D, LaBella A, Onel K, Ostrer H, Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells HGG advances3:100085 2022 |
| PubMed ID: 35146455 |
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| Serova OM, Mazoyer S, Puget N, Dubois V, Tonin P, Shugart YY, Goldgar D, Narod SA, Lynch HT, Lenoir GM, Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am J Hum Genet60:486-95 1997 |
| PubMed ID: 9042907 |
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