GM14170

GM14170 LCL from B-Lymphocyte

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

Affected:

Yes

Sex:

Female

Age:

46 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Hereditary Cancers
GeT-RM Samples

Class

Heritable Cancer Syndromes and other Cancers

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Relation to Proband

proband

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Fallopian tube cancer; family history includes mother with ovarian cancer and 2 second degree relatives with breast cancer; the germline mutation is a 1bp deletion at nucleotide 6174 (6174delT) in exon 11 resulting in a frameshift beginning at codon 1982 and terminating at codon 2003 (S1982fsX2003)

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

MUTATION VERIFICATION

For multiply confirmed mutations by the GeT-RM program please click here: MTHFR SERPINA1 RET BRCA1 and BRCA2 Reference Materials characterized by GeT-RM

Gene

BRCA2

Chromosomal Location

13q13.1

Allelic Variant 1

600185.0009; BREAST CANCER 2, EARLY-ONSET

Identified Mutation

1-BP DEL, 6174T, FS; Neuhausen et al. [Nature Genet. 13: 126-128, (1996)] investigated the frequency of a 6174delT frameshift mutation in 200 women with early-onset breast cancer. Six of 80 Ashkenazi Jewish women diagnosed with breast cancer before the age of 42 years were found to be heterozygous for the mutation, whereas the mutation was not detected in 93 non-Jewish women diagnosed with breast cancer at the same age. The mutation was detected in 2 of 27 additional Jewish families in which breast cancer occurred at age 42 to 50 years in the proband. The frequency of the 6174delT mutation in Ashkenazim was estimated to be 3 per 1000.

Phenotypic Data

Remarks

Publications

Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023

PubMed ID: 38524212

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 & therapy5:63-71 2019

PubMed ID: 31209714

Hong F, Ma D, Wu K, Mina LA, Luiten RC, Liu Y, Yan H, Green AA, Precise and Programmable Detection of Mutations Using Ultraspecific Riboregulators Cell180:1018-1032.e16 2019

PubMed ID: 32109416

Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV, Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing The Journal of molecular diagnostics : JMD11:553-61 2009

PubMed ID: 19767587

Dufresne SD, Belloni DR, Wells WA, Tsongalis GJ, BRCA1 and BRCA2 mutation screening using SmartCycler II high-resolution melt curve analysis. Arch Pathol Lab Med130(2):185-7 2006

PubMed ID: 16454559

Manola KN, Terzoudi GI, Dardoufas CE, Malik SI, Pantelias GE, Radioprotective effect of amifostine on cells from cancer prone patients and healthy individuals studied by the G2 and PCC assays International journal of radiation biology79:831-8 2003

PubMed ID: 14630542

Tian H, Brody LC, Fan S, Huang Z, Landers JP, Capillary and microchip electrophoresis for rapid detection of known mutations by combining allele-specific DNA amplification with heteroduplex analysis. Clin Chem47(2):173-85 2001

PubMed ID: 11159764

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