Invitae Prostate Cancer Panel


Test description

This test analyzes up to 12 genes associated with a hereditary predisposition to prostate cancer. These genes were selected based on available evidence to provide Invitae’s most comprehensive test targeting hereditary prostate cancer.

Genetic testing may confirm a clinical diagnosis and guide treatment and management decisions. At-risk relatives may also be identified, allowing pursuit of a diagnostic evaluation, early detection and improved clinical outcome.

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Primary panel (11 genes)


EPCAM: Analysis is limited to deletion/duplication analysis
HOXB13: Analysis is limited to the NM_006361.5:c.251G>A, p.Gly84Glu variant.
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
TP53: Deletion/duplication analysis covers the promoter region.

Add-on preliminary-evidence gene (1 gene)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.


  • Hereditary breast and ovarian cancer syndrome (HBOC)
  • Li-Fraumeni syndrome (LFS)
  • Lynch syndrome

Prostate cancer is the fifth-most-common malignancy in the world. A man’s lifetime risk for developing this type of cancer is 1 in 7 (15%). More than 60% of cases are diagnosed after age 65; it is rarely found in individuals under 40.

Prostate cancer is currently considered to be a complex, multifactorial disease, with the vast majority of familial clustering attributed to the interaction of multiple shared susceptibility genes and environmental factors.

Most cases of prostate cancer are sporadic and not inherited, but approximately 5%–10% of cases are hereditary and due to an identifiable change in a gene called a pathogenic variant. Inherited pathogenic variants in certain genes—particularly BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2, and TP53—account for some cases of hereditary prostate cancer. Men with pathogenic variants in these genes have an increased risk of developing prostate cancer and, in some cases, other cancers as well.

Individuals with a pathogenic variant in one of these genes have an increased risk of malignancy compared to the average person, but not everyone with such a variant will actually develop cancer. Further, the same variant can present differently, even among family members. Because we cannot predict which cancers may develop, additional medical management strategies focused on cancer prevention and early detection may benefit most patients who are found to have a pathogenic variant. For gene-associated cancer risks, see the table below.

GeneProstate cancer riskReferences (PMIDs)
BRCA1 ~20% 14966099, 23747895
BRCA2 ~20% 10433620, 16141007
CHEK2 elevated 15492928, 25431674, 23149842
EPCAM up to 30% 23530095, 24425144
HOXB13 up to 60% 23457453, 25595936, 22841674
MLH1 up to 30% 23530095, 24425144
MSH2 up to 30% 23530095, 24425144
MSH6 up to 30% 23530095, 24425144
NBN elevated 23149842, 14973119
PMS2 up to 30% 23530095, 24425144
TP53 unknown 20301488

Elevated: There is evidence of association, but the penetrance and risk are not well characterized.
Unknown: Based on small studies, the risk may possibly be increased, but it is not well described.

The genes on this panel confer an increased risk of developing prostate cancer in an autosomal dominant inheritance pattern. BRCA2 is also associated with autosomal recessive Fanconi anemia. The MLH1, MSH2, MSH6, and PMS2 genes are also associated with autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D). EPCAM is associated with autosomal recessive congenital tufting enteropathy (CTE).

This panel may be considered for individuals with prostate cancer. Other candidates for testing include those whose history is suggestive of a hereditary cancer syndrome, such as a personal and/or family history of:

  • prostate, breast, ovarian, uterine, colon, pancreatic, melanoma,or sarcoma, particularly if early onset (<50)
  • prostate cancer with a Gleason score ≥7
  • male breast cancer
  • breast or ovarian cancer and Ashkenazi Jewish ancestry

There are also some common, general features suggestive of a hereditary cancer syndrome family. These include:

  • cancer diagnosed at an unusually young age
  • different types of cancer that have occurred independently in the same person
  • cancer that has developed in both organs of a set of paired organs (e.g., both kidneys; both breasts)
  • several close blood relatives that have the same type of cancer
  • unusual cases of a specific cancer type (fe.g., breast cancer in a man)

  1. Breast, Cancer, Linkage, Consortium. Cancer risks in BRCA2 mutation carriers. J. Natl. Cancer Inst. 1999; 91(15):1310-6. doi: 10.1093/jnci/91.15.1310. PMID: 10433620
  2. Cybulski, C, et al. An inherited NBN mutation is associated with poor prognosis prostate cancer. Br. J. Cancer. 2013; 108(2):461-8. doi: 10.1038/bjc.2012.486. PMID: 23149842
  3. Cybulski, C, et al. CHEK2 is a multiorgan cancer susceptibility gene. Am. J. Hum. Genet. 2004; 75(6):1131-5. PMID: 15492928
  4. Cybulski, C, et al. NBS1 is a prostate cancer susceptibility gene. Cancer Res. 2004; 64(4):1215-9. doi: 10.1158/0008-5472.can-03-2502. PMID: 14973119
  5. Hale, V, et al. CHEK2 (∗) 1100delC Mutation and Risk of Prostate Cancer. Prostate Cancer. 2014; 2014:294575. PMID: 25431674
  6. Karlsson, R, et al. A population-based assessment of germline HOXB13 G84E mutation and prostate cancer risk. Eur. Urol. 2014; 65(1):169-76. PMID: 22841674
  7. Kote-Jarai, Z, et al. Prevalence of the HOXB13 G84E germline mutation in British men and correlation with prostate cancer risk, tumour characteristics and clinical outcomes. Ann. Oncol. 2015; 26(4):756-61. PMID: 25595936
  8. Li, D, et al. The role of BRCA1 and BRCA2 in prostate cancer. Front Biosci (Landmark Ed). 2013; 18:1445-59. PMID: 23747895
  9. Liede, A, et al. Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J. Clin. Oncol. 2004; 22(4):735-42. PMID: 14966099
  10. MacInnis, RJ, et al. Population-based estimate of prostate cancer risk for carriers of the HOXB13 missense mutation G84E. PLoS ONE. 2013; 8(2):e54727. PMID: 23457453
  11. National Comprehensive Cancer Network, Clinical practice guidelines in oncology. Genetic/Familial High Risk Assessment: Breast and Ovarian. Accessed September 2015.
  12. National Library of Medicine Genetics Home Reference. Prostate cancer. Accessed August 2015.
  13. Raymond, VM, et al. Elevated risk of prostate cancer among men with Lynch syndrome. J. Clin. Oncol. 2013; 31(14):1713-8. PMID: 23530095
  14. Ryan, S, et al. Risk of prostate cancer in Lynch syndrome: a systematic review and meta-analysis. Cancer Epidemiol. Biomarkers Prev. 2014; 23(3):437-49. PMID: 24425144
  15. Schneider, K, et al. Li-Fraumeni Syndrome. 1999 Jan 19. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: PMID: 20301488
  16. Stott-Miller, M, et al. HOXB13 mutations in a population-based, case-control study of prostate cancer. Prostate. 2013; 73(6):634-41. PMID: 23129385
  17. U.S. Department of Health and Human Services. What is Your Prostate?, Accessed September 2015.
  18. van, Asperen, CJ, et al. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J. Med. Genet. 2005; 42(9):711-9. doi: 10.1136/jmg.2004.028829. PMID: 16141007

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ATM NM_000051.3
BRCA1 NM_007294.3
BRCA2 NM_000059.3
CHEK2 NM_007194.3
EPCAM* NM_002354.2
HOXB13* NM_006361.5
MLH1* NM_000249.3
MSH2* NM_000251.2
MSH6 NM_000179.2
NBN NM_002485.4
PMS2 NM_000535.5
TP53* NM_000546.5

EPCAM: Analysis is limited to deletion/duplication analysis
HOXB13: Analysis is limited to the NM_006361.5:c.251G>A, p.Gly84Glu variant.
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
TP53: Deletion/duplication analysis covers the promoter region.