Description:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
BREAST CANCER 2, EARLY-ONSET; BRCA2
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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 |
| |
| Gene |
BRCA2 |
| Chromosomal Location |
13q13.1 |
| Allelic Variant 1 |
W194X; BREAST CANCER 2, EARLY-ONSET |
| Identified Mutation |
TRP194TER |
| Remarks |
Breast cancer; family history includes two sisters with breast cancer; a germline mutation in exon 7 (810G>A) results in a nonsense mutation [Trp194ter, W194X)] |
| Couch FJ, Farid LM, DeShano ML, Tavtigian SV, Calzone K, Campeau L, Peng Y, Bogden B, Chen Q, Neuhausen S, Shattuck-Eidens D, Godwin AK, Daly M, Radford DM, Sedlacek S, Rommens J, Simard J, Garber J, Merajver S, Weber BL, BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet13:123-5 1996 |
| PubMed ID: 8673091 |
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