GM14805

GM14805 LCL from B-Lymphocyte

Description:

BREAST CANCER 2, EARLY-ONSET; BRCA2

Affected:

Yes

Sex:

Female

Age:

43 YR (At Sampling)

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Hereditary Cancers

Class

Heritable Cancer Syndromes and other Cancers

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Race

White

Relation to Proband

proband

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

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)]

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

dbSNP

dbSNP ID: 12192

Gene Cards

BRCA2

Gene Ontology

GO:0000074 regulation of cell cycle

GO:0000724 double-strand break repair via homologous recombination

GO:0003676 nucleic acid binding

GO:0003697 single-stranded DNA binding

GO:0003713 transcription coactivator activity

GO:0005515 protein binding