Ovarian Cancer Focus Panel

  • Panel Description
  • Test Description
  • CPT Codes
  • Resources
  • Gene Descriptions

Panel Description

Hereditary Ovarian Cancer
The Ovarian Cancer Focus Panel examines 16 genes associated with an increased risk for hereditary ovarian cancer.

Patients with a personal or family history suggestive of a hereditary ovarian cancer syndrome. Red flags for hereditary ovarian cancer could include onset of cancer prior to the age of 50 years, more than one primary cancer in a single person, and multiple affected people within a family (especially with ovarian, breast, and colorectal cancers.) This test is designed to detect individuals with a germline pathogenic variant, and is not validated to detect mosaicism below the level of 20%. It should not be ordered on tumor tissue.

Patients identified with hereditary ovarian cancer can benefit from increased surveillance and preventative steps to better manage their risk for cancer. Knowing the specific gene involved can guide medical management. Also, your patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.

Test Description

  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
2 - 3 weeks
Call for details
BARD1, BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PMS2, RAD51C, RAD51D, STK11, TP53 ( 16 genes )
99% at 50x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
Test results and variant interpretation are based on the proper identification of the submitted specimen and use of correct human reference sequences at the queried loci. In very rare instances, errors may result due to mix-up or co-mingling of specimens. Positive results do not imply that there are no other contributions, genetic or otherwise, to the patient's phenotype, and negative results do not rule out a genetic cause for the indication for testing. Result interpretation is based on the collected information and Alamut annotation available at the time of reporting. This assay is not designed or validated for the detection of mosaicism. DNA alterations in regulatory regions or deep intronic regions (greater than 20bp from an exon) will not be detected by this test. There are technical limitations on the ability of DNA sequencing to detect small insertions and deletions. Our laboratory uses a sensitive detection algorithm, however these types of alterations are not detected as reliably as single nucleotide variants. Rarely, due to systematic chemical, computational, or human error, DNA variants may be missed. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the confounding contribution of pseudogene sequences or other highly-homologous sequences, sometimes these may still interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Deletion/duplication analysis can identify alterations of genomic regions which are a single exon in size. When novel DNA duplications are identified, it is not possible to discern the genomic location or orientation of the duplicated segment, hence the effect of the duplication cannot be predicted. Where deletions are detected, it is not always possible to determine whether the predicted product will remain in-frame or not. Unless otherwise indicated, in regions that have been sequenced by Sanger, deletion/duplication analysis has not been performed.

Patients with Bone Marrow Transplants:
DNA extracted from cultured fibroblasts should be submitted instead of blood/saliva/buccal samples from individuals who have undergone allogeneic bone marrow transplant and from patients with hematologic malignancy.

Gene Notes
MSH2 Inversion of MSH2 exons 1-7 ("Boland" inversion) is assessed for Lynch Syndrome, Colorectal, Endometrial, and Prostate Cancer Panel testing (for both Focus and Comprehensive Panels) as well as Comprehensive Gastric Cancer Panel testing. Unless otherwise specified, this testing is not performed for other cancer panels, but is available upon request.
CPT Code 81162, 81404

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.
WHY ORDER THIS TEST?

Resources

DescriptionDownload
Hereditary Ovarian Cancer Information for Patients
Genetic Testing for Hereditary Breast and Ovarian Cancer Webinar

Genetic Testing for Hereditary Cancers Webinar

Gene Descriptions

Gene Reason Reference
BARD1 Heterozygous pathogenic variants in the BARD1 gene raise an individual’s risk of developing breast cancer in their lifetime. While a possible association with ovarian cancer has been raised, at this time, there is not enough evidence to link variants in this gene to an increased risk. Additional research is needed. PubMed:23586058, 26720728, 28418444; OMIM: 114480
BRCA1 Autosomal dominant pathogenic variants in the BRCA1 gene are the most common cause of hereditary breast and ovarian cancer syndrome (HBOC), which includes up to a 63% lifetime risk for ovarian cancer. PubMed: 9497246, 12677558, 17416853, 20301425, 22846731
BRCA2 Autosomal dominant mutations in the BRCA2 gene are implicated in the hereditary breast and ovarian cancer syndrome (HBOC). Additionally, biallelic mutations in BRCA2 gene are associated with autosomal recessive Fanconi anemia Type D1 . PubMed: 12065746, 12677558, 9497246, 17416853, 18042939, 20301425, 22846731
MSH6 Autosomal dominant pathogenic variants in MSH6 are associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome. Biallelic pathogenic variants have been associated with constitutional mismatch repair deficiency syndrome (CMMRD). PubMed: 20301390, 22692065; OMIM: 120436
EPCAM Heterozygous pathogenic variants in the EPCAM gene cause Hereditary Non-Polyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, which is associated with an increased risk for ovarian cancer. PubMed: 20301390, 23462293
MLH1 While heterozygous pathogenic variants in MLH1 are associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, biallelic pathogenic variants have been associated with constitutional mismatch repair deficiency syndrome (CMMRD). PubMed: 20301390, 22692065; OMIM: 120436
MRE11 Autosomal dominant pathogenic variants in the MRE11 gene, also known as MRE11A, have been associated with a predisposition to breast cancer . Biallelic mutations in the MRE11A gene are associated with MRE11 deficiency, an ataxia telangiectasia-like disorder. At this time, an association with ovarian cancer has not been found; additional research is needed. PubMed: 26436112, 26328243, 15574463; OMIM: 600814
MSH2 Heterozygous pathogenic variants in MSH2 are associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome. Biallelic pathogenic variants have been associated with constitutional mismatch repair deficiency syndrome (CMMRD). PubMed: 20301390, 22692065; OMIM: 120436
NBN Heterozygous pathogenic variants in NBN (also known as NBS1) have been associated with a number of malignancies, including breast cancer. Biallelic pathogenic variants in NBN have been associated with Nijmegen Breakage syndrome (NBS). While an association with ovarian cancer has been suggested, there is not currently enough evidence to confirm an association. Additional research is needed. PubMed: 26315354, 21514219, 20301355; OMIM: 609135, 251260
PMS2 Heterozygous pathogenic variants in PMS2 are associated with Hereditary Nonpolyposis Cancer Syndrome (HNPCC), also known as Lynch syndrome. PMS2 is the least common of the mismatch repair genes that cause HNPCC, accounting for less than 5% of cases. Biallelic pathogenic mutations in PMS2 have been associated with constitutional mismatch repair deficiency syndrome (CMMRD). PubMed: 20301390, 22692065
RAD51C Heterozygous pathogenic variants in RAD51C are associated with an increased risk for ovarian cancer, and possibly breast cancer. Additionally, biallelic pathogenic variants in RAD51C were reported to be associated with Fanconi anemia. PubMed: 22476429, 22538716, 21990120, 2841844
RAD51D Heterozygous pathogenic variants in RAD51D are associated with an increased risk for breast cancer and ovarian cancer. PubMed: 21822267, 26261251, 2841844
STK11 Autosomal dominant pathogenic variants in STK11 have been associated with Peutz-Jeghers syndrome (PJS) which is associated with an increased risk for multiple types of cancer, including breast, ovarian, gastric, colorectal, and pancreatic. PubMed: 15121768, 20301443; OMIM: 175200, 260350
TP53 Heterozygous pathogenic variants in the TP53 gene are associated with Li-Fraumeni syndrome, a condition that increases risk for many types of cancer, including ovarian cancer. PubMed: 20301488, 26014290, 2614290; OMIM: 151623, 191170
BRIP1 Heterozygous pathogenic germline variants in the BRIP1 gene are associated with an increased risk for ovarian cancer. Biallelic mutations in BRIP1 have been associated with Fanconi anemia of complementation group J (FANCJ). PubMed: 24301948, 28085182, 20301575; OMIM: 609054, 605882