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SAMPLE REPORT
LCLS Specimen Number:
Patient Name:
Date of Birth:
Gender:
Patient ID:
141-225-9902-0
NGSPOS1, TEST
01/01/1970
F
123456
Test: Comprehensive BRCA1/2
Analysis
Client/Sending Facility:
LABCORP OF AMERICA
CMB&P
1912 ALEXANDER DR
RESEARCH TRIANGL, NC 27709
Ph: (919)361-7700
Fax: (919) 361-7798 NCB-13
Account Number:
Ordering Physician:
Specimen Type:
Date Collected:
Date Received:
90001555
Dr. ZVEREFF
BLOOD
05/22/2014
05/22/2014
Date Reported: 06/02/2014
Result: Positive for BRCA1 Pathogenic Variant
Results Summary:
Gene
Variant
Zygosity
Classification
Detected
---------------------------------------------------------BRCA1
Sequencing c.5277+1G>A
Heterozygous Pathogenic
Del/Dup
Not Detected
BRCA2
Sequencing Not Detected
Del/Dup
Not Detected
Interpretation:
A heterozygous c.5277+1G>A variant was detected in BRCA1. This variant
is predicted to disrupt normal splicing of the BRCA1 gene and has been
previously reported in individuals with Hereditary Breast and Ovarian
Cancer. Therefore, this variant detected in BRCA1 has been classified
as associated with an increased risk for the Hereditary Breast and
Ovarian Cancer Syndrome.
In women with BRCA1 mutations, the estimated lifetime risk of breast
cancer is 50-80% and the risk of ovarian cancer is 24-40%. BRCA1
mutations have been reported to convey a 27% risk of a second primary
breast cancer within 5 years. Additionally, studies indicate a 1-3%
risk of pancreatic cancer with BRCA1 mutations. The estimated lifetime
risk of male breast cancer is 1-2% and up to a 30% risk of prostate
cancer. Both men and women with mutations in BRCA1/2 may also be at
increased risk of other cancers (Petrucelli, N, et al. BRCA1 and BRCA2
Hereditary Breast and Ovarian Cancer. Gene Reviews. Available at:
http://www.ncbi.nlm.nih.gov/books/NBK1247. Accessed February 17, 2014).
There is a 50% (1 in 2) chance of a first-degree relative having this
BRCA1 mutation. Please call 800-345-4363 to speak to a Labcorp Genetic
Counselor to discuss targeted analysis for other family members.
The indication for testing for this patient is a reported personal and/
or family history of cancers related to Hereditary Breast and Ovarian
Cancer Syndrome.
Recommendation:
Genetic counseling is strongly recommended to discuss the clinical
implications of this result as well as recommendations for testing
other family members. Genetic counselors are available for health care
providers to discuss this result further at (800)345-GENE.
Page 1 of 3
SAMPLE REPORT
LCLS Specimen Number:
Patient Name:
Date of Birth:
Gender:
Patient ID:
141-225-9902-0
NGSPOS1, TEST
01/01/1970
F
123456
Client/Sending Facility:
LABCORP OF AMERICA
CMB&P
1912 ALEXANDER DR
RESEARCH TRIANGL, NC 27709
Ph: (919)361-7700
Fax: (919) 361-7798 NCB-13
Account Number:
Ordering Physician:
Specimen Type:
Date Collected:
Date Received:
90001555
Dr. ZVEREFF
BLOOD
05/22/2014
05/22/2014
Comments:
Each gene sequence is interpreted independently of all other gene
sequences. However, variants in different genes may sometimes interact
to cause or modify a typically monogenic disease phenotype. It cannot
be excluded that pathogenic variants were missed due to limitations
inherent in the sequence analysis method used here (see Methods/
Limitations section). In addition, the presence of the Hereditary
Breast and Ovarian Cancer Syndrome due to a different genetic cause
can also not be ruled out. Any interpretation given here should be
clinically correlated with available information about presentation and
relevant family history of the patient.
Methods/Limitations:
The entire gene coding region of BRCA1/BRCA2 genes, as well as all
flanking noncoding regions, is analyzed by next generation sequencing.
The multiple-ligation-probe amplification assay (MLPA) was performed
to detect copy number variations (deletions and duplications) in the
BRCA1 and BRCA2 genes. Synonymous variants and variants known to be
benign are not reported but are available upon request. Results are
reported using numbering and nomenclature recommended by the Human
Genome Variation Society (HGVS http://www.hgvs.org/). Nucleotide and
codon number are based on the mRNA isoform NM_007294 for BRCA1 gene and
NM_000059 for BRCA2 gene.
References:
1. National Comprehensive Cancer Network. Clinical practice guidelines
in oncology, genetic/familial high-risk assessment: breast and ovarian.
Available at: www.nccn.org. 2010. Accessed 5.29.13.
2. American Society of Clinical Oncology Policy Statement Update:
Genetic Testing for Cancer Susceptibility. J Clin Oncol. 2003 Jun 15;
21(12):2397-406.
3. Engert S. et al. MLPA screening in the BRCA1 gene from 1,506 German
hereditary breast cancer cases: novel deletions, frequent involvement
of exon 17, and occurrence in single early-onset cases. Hum Mutat. 2008
Jul;29(7):948-58.
4. Judkins T. et al. Clinical significance of large rearrangements in
BRCA1 and BRCA2. Cancer. 2012 Nov 1;118(21):5210-6.
5. Rehm H. et al. Working Group of the American College of Medical
Genetics and Genomics Laboratory Quality Assurance Commitee. ACMG
clinical laboratory standards for next-generation sequencing. Genet
Med. 2013 Sep;15(9):733-47.
Disclaimer:
Unless stated otherwise in this report, this test was developed and its performance characteristics determined by LabCorp. 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. LabCorp, is regulated under the Clinical Laboratory
Improvement Amendments of 1988 (CLIA) as qualified to perform high-complexity clinical testing.
Page 2 of 3
SAMPLE REPORT
LCLS Specimen Number:
Patient Name:
Date of Birth:
Gender:
Patient ID:
141-225-9902-0
NGSPOS1, TEST
01/01/1970
F
123456
Client/Sending Facility:
LABCORP OF AMERICA
CMB&P
1912 ALEXANDER DR
RESEARCH TRIANGL, NC 27709
Ph: (919)361-7700
Fax: (919) 361-7798 NCB-13
Account Number:
Ordering Physician:
Specimen Type:
Date Collected:
Date Received:
90001555
Dr. ZVEREFF
BLOOD
05/22/2014
05/22/2014
__________________________________________________
Val V. Zvereff, M.D.,Ph.D.,FACMG
Director
Testing performed by Laboratory Corporation of America Holdings,
1912 Alexander Drive , RTP , NC , 27709-0000 (800) 735-4087
Page 3 of 3
Arundhati Chatterjee, MD
Medical Director