DEPARTMENT OF HEALTH & HUMAN SERVICES
Public Health Service
National Human Genome Research Institute
National Institutes of Health
49 Convent Dr. MSC 4472
Room 4B75
Bethesda, Maryland 20892-4472
Phone (301) 594-3981
Email: jjohnsto@mail.nih.gov
Fax (301) 402-2170
BRCA2 DNA TEST REPORT
Patient Name:
DOB:
Lab Accession No:
Mutation Analyzed: c.8297delC, p.T2766NfsX11
Gene/Position analyzed: BRCA2 c.8297
Sample type: Genomic DNA
Sample Recd:
Request date:
Report Date:
Affection Status:
Test Indication: Alteration identified during research-driven sequence analysis of submitted
DNA sample.
Result: Heterozygous mutation c.8297delC, p.T2766NfsX11 was confirmed.
Interpretation: The mutation predicts a frame shift in BRCA2 (breast cancer susceptibility gene 2).
Heterozygous alterations in the BRCA2 gene cause Hereditory Breat/Ovarian Cancer.
Individuals with mutations in BRCA2 have an increased risk of developing certain types of
cancers.
These results should be interpreted in the context of the patient's clinical history
Method: Analysis was performed on genomic DNA isolated at the National Institutes of Health from
a submitted blood sample. Exon 17 of the BRCA2 gene was PCR amplified, followed by direct
DNA sequencing with the same forward and reverse primers. cDNA position numbers are based
on reference sequence NM_000059.3 using nucleotide 228 as position 1 of the ATG. Bi-directional
sequence was obtained and analyzed.
Jennifer J. Johnston, PhD
CLIA Laboratory Director
Leslie G. Biesecker, MD, FACMG
Clinical Consultant
This test was developed and its performance determined at the NIH. It has not been cleared or approved by the U.S.
Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is
used for clinical purposes. Pursuant to the requirements of CLIA ‘88 this laboratory has established and verified the test’s
accuracy and precision. CLIA ID#: 21D1062422.
Page 1 of 2
General Limitations:
As with any laboratory test, there is a possibility of incorrect or false results, and it is essential that this test
result be interpreted in light of the clinical context of this patient. Some potential reasons for incorrect or
false results include sample mixups or sample labeling errors or cross-contamination among samples.
These can occur at a number of points in the sample handling process. Although we have no reason to be
concerned about such an error in this case, clinicians should be alert for situations where this may have
occurred.
This report specifically confirms the presence or absence of the mutation(s) listed in the section of the
report labeled “Mutation(s) analyzed". This report should not be used to infer information regarding any
sequence other than the specific mutations listed.
Reference:
Tavtigian (1996) Nat Genet 12, 333.
This test was developed and its performance determined at the NIH. It has not been cleared or approved by the U.S.
Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is
used for clinical purposes. Pursuant to the requirements of CLIA ‘88 this laboratory has established and verified the test’s
accuracy and precision. CLIA ID#: 21D1062422.
Page 2 of 2