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 |
600185.0002; BREAST CANCER 2, EARLY-ONSET |
| Identified Mutation |
2-BP DEL, 6503TT; By sequencing the putative BRCA2 gene in individuals with early-onset breast cancer who shared only the haplotype of 13q microsatellite markers that segregated with the disease, Wooster et al. (Nature 378: 789-792, 1995) a TT deletion in family CRC B211, respectively. |
| Remarks |
Infiltrating adenocarcinoma of right breast and infiltrating ductal carcinoma of left breast; family history: father and uncle with prostate cancer, aunt with breast cancer, aunt with ovarian cancer, and uncle with lung cancer; frameshift mutation in BRCA2 gene is 6503delTT in exon 11, leading to a truncation at codon 2099 (R2092fsX2099) |
| Atkins A, Gupta P, Zhang BM, Tsai WS, Lucas J, Javey M, Vora A, Mei R, Detection of Circulating Tumor DNA with a Single-Molecule Sequencing Analysis Validated for Targeted and Immunotherapy Selection Molecular diagnosis & therapy: 2019 |
| PubMed ID: 31209714 |
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