Full Focus Cancer Panel

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

Panel Description

Hereditary Breast Cancer
Hereditary Colorectal Cancer
Hereditary Endometrial Cancer
Hereditary Ovarian Cancer
Hereditary Prostate Cancer
Fulgent Focus Cancer Panels target 30 genes associated with high/moderate risk for hereditary cancer syndromes and established clinical management guidelines for disease-causing variants. These panels provide the most optimal balance between detection of pathogenic cancer susceptibility mutations, and minimizing the number of reported variants of unknown clinical significance.

Adults with a personal or family history suggestive of a hereditary cancer syndrome. Red flags for a hereditary cancer susceptibility 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. After consideration of a patient’s clinical and family history, this testing may be appropriate for some pediatric patients. (If there are specific genes that you do NOT want included, please indicate this on the test requisition form.) 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 cancer susceptibility can benefit from increased surveillance and preventative steps to better manage their risk for cancer. Knowing the specific gene involved can guide medical management and avoid unnecessary follow up. 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.

Test Description

Print
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
2 - 3 weeks
Call for details
APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, GREM1, HOXB13, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMAD4, STK11, TP53 ( 30 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. Official gene names change over time. Fulgent uses the most up to date gene names based on HUGO Gene Nomenclature Committee (https://www.genenames.org) recommendations. If the gene name on report does not match that of ordered gene, please contact the laboratory and details can be provided. 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 in genomic regions and is evaluated at a single exon resolution level in relevant genes associated with the patient's clinical presentation. For custom added genes and applicable genes that may be of interest, deletion/duplication analysis is evaluated at a resolution of two or more contiguous exons. 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, 81292, 81321

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.

Resources

DescriptionDownload
Hereditary Breast Cancer Information for Patients
Hereditary Colorectal Cancer Information for Patients
Hereditary Endometrial Cancer Information for Patients
Hereditary Ovarian Cancer Information for Patients
Hereditary Prostate Cancer Information for Patients
Genetic Testing for Hereditary Cancers Webinar

Gene Descriptions

Gene Reason Reference
APC Heterozygous pathogenic variants in APC are associated with both classic and attenuated familial adenomatous polyposis (FAP), Gardner syndrome, Turcot syndrome, and Hereditary Desmoid disease. PubMed: 20301519; OMIM: 175100
ATM Heterozygous pathogenic variants in ATM are associated with an increased risk for breast and pancreatic cancer. Additionally, biallelic pathogenic variants in ATM have been associated with ataxia-telangiectasia, which is associated with a higher risk for lymphoma and leukemia. PubMed: 15928302, 22585167, 20301790, 28418444; OMIM: 607585
BARD1 Heterozygous pathogenic variants in the BARD1 gene raise an individual’s risk of developing breast cancer in their lifetime. PubMed:23586058, 28418444; OMIM: 114480
BMPR1A Heterozygous pathogenic variants in BMPR1A are associated with Juvenile Polyposis Syndrome (JPS). PubMed: 17303595, 20301642, 9869523; OMIM: 174900
BRCA1 Heterozygous pathogenic variants in the BRCA1 gene are the most common cause of hereditary breast and ovarian cancer syndrome (HBOC). 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, 22187320
CDH1 Pathogenic heterozygous variants in the CDH1 (E-Cadherin) gene are associated with an increased risk for gastric and lobular breast cancer. PubMed: 11729114, 20301318; OMIM: 192090
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. PubMed: 20301390, 23462293
SMAD4 Heterozygous pathogenic variants in SMAD4 are associated with Juvenile Polyposis Syndrome (JPS). Biallelic pathogenic variants cause Hereditary Hemorrhagic Telangiectasia (HHT). PubMed: 19553198, 20301642
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. 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
MUTYH Biallelic pathogenic variants in the MUTYH gene cause MUTYH-associated polyposis syndrome (MAP). Heterozygous pathogenic variants in the MUTYH gene may result in a small increased risk for colon cancer. Elevated risk for ovarian cancers have also been reported. PubMed: 16492921, 19394335, 23035301, 23507534
NBN Heterozygous pathogenic variants in NBN (also known as NBS1) have been associated with a number of malignancies including melanoma, non-Hodkins lymphoma, medulloblastoma, and colorectal, prostate, and breast cancers . Other studies have shown possible associations with aplastic anemia and acute lymphoblastic leukemia. Biallelic pathogenic variants in NBN have been associated with Nijmegen Breakage syndrome (NBS). Individuals with NBS generally have progressive intellectual disability, growth retardation and immunodeficiency, and are at an increased risk for a variety of cancers, including lymphoma, glioma, and medulloblastoma. PubMed: 14973119, 15185344, 16474176, 16770759, 18079974, 19908051, 21514219,15338273,11325820, 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
POLD1 Heterozygous pathogenic variants in POLD1 have been associated with colorectal cancer and other adenomas including endometrial and breast. PubMed: 24509466, 23263490
POLE Heterozygous pathogenic variants in the POLE gene are associated with early onset colorectal cancer (CRC) and polyposis, also known as Polymerase Proofreading-associated Syndrome (PPAS). Further studies are needed to determine which cancers are directly related to POLE gene variants and the levels of associated risks. Based on the information available today, the risk for colorectal cancer appears to be significantly elevated, and the risk for brain tumors may also be increased . PubMed: 23263490, 26133394; OMIM: 174762
PTEN Individuals with heterozygous pathogenic PTEN variants are at a significantly increased risk for multiple types of cancers, including breast, thyroid, colorectal, endometrial, renal, and others. Autosomal dominant mutations in PTEN have been associated with a spectrum of disorders sometimes referred to as PTEN hamartoma tumor syndrome. PHTS includes several conditions with overlapping clinical features, including Bannayan-Riley-Ruvalcaba syndrome (BRRS), Cowden syndrome (CWS1), macrocephaly/autism syndrome, and PTEN-related Proteus syndrome (PS). PubMed: 20301661; OMIM: 601728
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. PubMed: 20301488, 26014290, 2614290; OMIM: 151623, 191170
AXIN2 Heterozygous pathogenic variants in AXIN2 are associated with Oligodontia-Colorectal Cancer Syndrome (ODCRCS) . ODCRCS is associated with an elevated risk for colorectal (colon) cancer in both men and women, in comparison to the general population, albeit the current elevation in risk remains unkn PubMed: ­­­­­­­­­15042511; OMIM: 608615
RAD50 Autosomal dominant pathogenic variants in RAD50 may be associated with a small increased risk for breast cancer, although studies are contradictory. Biallelic pathogenic variants in RAD50 were reported to be associated with Nijmegen breakage syndrome-like disorder (NBSLD) in one individual. PubMed: 19409520, 20301355, 23586058, 26250988, 28418444; OMIM: 613078
HOXB13 Heterozygous pathogenic variants in HOXB13 are associated with an increased risk for prostate cancer. PubMed: 22236224, 24026887, 22841674, 23457453­­­­­­­­­; OMIM: 604607
CHEK2 Heterozygous pathogenic variants in CHEK2 are associated with an increased risk for breast, prostate, colorectal, and thyroid cancer, as well as melanoma. PubMed: 16998506, 18172190, 21876083, 27595995, 15492928, 11719428, 20597917, 21807500, 21876083, 21956126, 23713947, 23296741, 24240112, 24599715, 24879340, 25431674, 28283864
GREM1 Duplications upstream from the GREM1 gene have been associated with Hereditary Mixed Polyposis syndrome. PubMed: 22561515, 25992589, 26947005, 28242209; OMIM: 603054
PALB2 Autosomal dominant pathogenic variants in PALB2 have been associated with an increased risk of some types of cancer, including breast and pancreatic cancer. Biallelic pathogenic variants in PALB2 have been associated with Fanconi anemia of complementation group N (FANCN) . For women, the risk for breast cancer has been estimated to be two to three times greater than the population risk. PubMed: 17200672, 24870022, 17200668, 21285249, 24141787, 25099575; OMIM: 610355
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