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  • Test code: 01101
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    10–21 calendar days (14 days on average)
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  • Alternate specimens:
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  1. Test Catalog
  2. Invitae Multi-Cancer Panel

Invitae Multi-Cancer Panel

Test description

The Invitae Multi-Cancer Panel analyzes 83 genes associated with hereditary cancers across eight major organ systems, including:

  • breast and gynecologic (breast, ovarian, uterine)
  • gastrointestinal (colorectal, gastric, pancreatic)
  • endocrine (thyroid, paraganglioma/pheochromocytoma, hyperparathyroidism)
  • genitourinary (renal/urinary tract, prostate)
  • skin (melanoma, basal cell nevus syndrome)
  • brain/nervous system
  • sarcoma
  • hematologic (myelodysplastic syndrome/leukemia)

The Invitae Multi-Cancer Panel is designed to maximize diagnostic yield for individuals with a personal or family history of mixed cancers affecting multiple organ systems.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

Genes tested

ALK APC ATM AXIN2 BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CASR CDC73 CDH1 CDK4 CDKN1B CDKN1C CDKN2A CEBPA CHEK2 CTNNA1 DICER1 DIS3L2 EGFR EPCAM FH FLCN GATA2 GPC3 GREM1 HOXB13 HRAS KIT MAX MEN1 MET MITF MLH1 MSH2 MSH3 MSH6 MUTYH NBN NF1 NF2 NTHL1 PALB2 PDGFRA PHOX2B PMS2 POLD1 POLE POT1 PRKAR1A PTCH1 PTEN RAD50 RAD51C RAD51D RB1 RECQL4 RET RUNX1 SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SMARCB1 SMARCE1 STK11 SUFU TERC TERT TMEM127 TP53 TSC1 TSC2 VHL WRN WT1

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Primary panel (83 genes)

ALK APC ATM AXIN2 BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CASR CDC73 CDH1 CDK4 CDKN1B CDKN1C CDKN2A CEBPA CHEK2 CTNNA1 DICER1 DIS3L2 EGFR EPCAM FH FLCN GATA2 GPC3 GREM1 HOXB13 HRAS KIT MAX MEN1 MET MITF MLH1 MSH2 MSH3 MSH6 MUTYH NBN NF1 NF2 NTHL1 PALB2 PDGFRA PHOX2B PMS2 POLD1 POLE POT1 PRKAR1A PTCH1 PTEN RAD50 RAD51C RAD51D RB1 RECQL4 RET RUNX1 SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SMARCB1 SMARCE1 STK11 SUFU TERC TERT TMEM127 TP53 TSC1 TSC2 VHL WRN WT1

Panel details and technical assay limitations

Clinical information

  • ataxia-telangiectasia (A-T)
  • Bloom syndrome
  • Carney complex
  • constitutional mismatch repair deficiency (CMMR-D)
  • Costello syndrome
  • Cowden and Cowden-like syndrome
  • DICER1 syndrome
  • dyskeratosis congenita
  • familial acute myeloid leukemia (AML) syndrome
  • familial adenomatous polyposis (FAP)
  • familial gastrointestinal stromal tumors (GIST)
  • familial neuroblastoma
  • familial platelet disorder with propensity to myeloid malignancy (FPD/AML)
  • Fanconi anemia
  • GATA2 deficiency
  • Gorlin syndrome (nevoid basal cell carcinoma)
  • hereditary breast and ovarian cancer syndrome (HBOC)
  • hereditary diffuse gastric cancer (HGDC)
  • hereditary papillary renal cell carcinoma
  • hereditary paraganglioma-pheochromocytoma syndrome (PGL/PCC)
  • juvenile polyposis syndrome (JPS)
  • Li-Fraumeni syndrome (LFS)
  • Lynch syndrome – also known as hereditary non-polyposis colorectal cancer (HNPCC)
  • melanoma-pancreatic cancer syndrome (M-PCS)
  • multiple endocrine neoplasia type 1 (MEN1)
  • multiple endocrine neoplasia type 2 (MEN2)
  • MUTYH-associated polyposis (MAP)
  • neurofibromatosis type 1 (NF1)
  • neurofibromatosis type 2 (NF2)
  • Nijmegen breakage syndrome (NBS)
  • oligodontia-colorectal cancer syndrome
  • Perlman syndrome
  • Peutz-Jeghers syndrome (PJS)
  • retinoblastoma
  • rhabdoid tumor predisposition syndrome (RTPS)
  • Simpson-Golabi-Behmel syndrome (SGBS)
  • tuberous sclerosis complex (TSC)
  • von Hippel-Lindau syndrome (VHL)
  • Werner syndrome
  • Wilms tumor-related conditions

The Invitae Multi-Cancer Panel analyzes 83 genes associated with hereditary cancers across eight major organ systems. Individuals with a pathogenic variant in one of the genes on this panel have an increased risk of developing cancer, many of which may be difficult both to detect and to treat. Identifying those at elevated risk may guide implementation of additional screening, surveillance, and interventions. These efforts may result in risk-reduction and early diagnosis, increasing the chances of successful treatment and survival.

Breast cancer
The average woman’s lifetime risk of developing breast cancer is 12%. Although there are a number of other genes associated with hereditary breast cancer, hereditary breast and ovarian cancer syndrome (HBOC) due to pathogenic variants in BRCA1 and BRCA2 accounts for most cases in individuals with a strong family history or an early onset diagnosis.

Ovarian
The general population risk for ovarian cancer is 1.3%. Lynch syndrome and hereditary breast and ovarian cancer syndrome (HBOC) are due to pathogenic variants in the BRCA1 and BRCA2 genes and are the most common causes of inherited ovarian cancer. Although ovarian cancer can also be caused by pathogenic variants in several other hereditary cancer genes.

Uterine
The general population risk for uterine cancer is 2.7%. Lynch syndrome is the most common inherited cause of uterine cancer, although there are a number of other hereditary cancer genes associated with this cancer type.

Colorectal
Colorectal cancer (CRC) is the third-most-common cancer diagnosis in the United States. Hereditary colorectal cancer syndromes are generally divided into two types: Lynch syndrome and polyposis syndromes. Lynch syndrome, also called hereditary non-polyposis colon cancer (HNPCC), is caused by pathogenic variants in EPCAM, MLH1, MSH2, MSH6, and PMS2 and is the most common inherited cause of colorectal cancer. Polyposis syndromes are characterized by the development of numerous precancerous polyps, which may become malignant.

Gastric
Gastric cancer occurs in approximately 1 in 93 individuals in the general population. Gastric adenocarcinomas account for 90%–95% of gastric cancers and are further histologically divided into intestinal type and diffuse type. Pathogenic variants in CDH1 are the most common cause of hereditary gastric cancer; however, there are a number of other genes associated with an increased risk of gastric tumors. Gastrointestinal stromal tumors (GISTs) are characterized as sarcomas and are rare tumors of the GI tract that account for 1%–3% of all gastric cancers. This panel includes genes that increase risk for each of these types of gastric tumors.

Pancreatic
There are two main types of pancreatic cancer: cancer of the exonic pancreas (pancreatic adenocarcinoma), which accounts for 95% of pancreatic tumors, and pancreatic neuroendocrine tumors. Hereditary pancreatic cancer can be caused by BRCA2 and CDKN2A, as well as by several other genes. This panel contains genes that are most commonly associated with an increased risk for both types of pancreatic cancer.

Renal/urinary tract
The general population risk of developing kidney cancer is approximately 1.6%. The lifetime risk of developing bladder cancer is 1%–3.8%, with approximately 75,000 new cases diagnosed in the United States each year. Unlike sporadic cases, hereditary cancers of the kidneys and urinary tract are often characterized by earlier disease onset or multifocal or bilateral tumors. Hereditary urinary tract cancers may also be syndromic and associated with other non-urinary features.

Prostate
A man’s lifetime risk for developing prostate cancer is 1 in 7 (15%). Inherited pathogenic variants in certain genes—particularly ATM, 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.

Melanoma
Most cases of melanoma are isolated and sporadic. While the number of individuals who have an inherited risk of melanoma is unknown, it is thought to be low. An estimated 8% of individuals with melanoma also have a first-degree relative with melanoma; approximately 1%–2% of people with melanoma have two or more affected close relatives. This panel includes genes associated with an increased risk for melanoma.

Thyroid
Thyroid cancer occurs in approximately 13 per 100,000 individuals in the general population each year. The most common type of thyroid cancer, accounting for over 90% of all cases, is non-medullary thyroid cancer (NMTC). Approximately 3%–10% of NMTC cases have a familial component. Medullary thyroid carcinoma (MTC) is a relatively uncommon type of thyroid malignancy and is more strongly associated with hereditary cancer syndromes.The familial form of MTC accounts for 20%–25% of cases and is usually a component of multiple endocrine neoplasia type 2 (MEN2), including subtypes MEN2A and MEN2B, or presents as familial MTC (FMTC) syndrome.

Paraganglioma (PGL) and pheochromocytoma (PCC)
PGL are rare, adult-onset neuroendocrine tumors that may or may not be malignant. PGL can develop throughout the body, from the middle ear and skull base (called head and neck PGL, or HNP) to the adrenal glands (called pheochromocytomas (PCC)). Most cases are sporadic, but approximately one-third are familial. Familial PGL/PCC can be non-syndromic; however, it can also be a feature of an underlying condition such as neurofibromatosis type 1, von Hippel-Lindau syndrome, or multiple endocrine neoplasia type 2. This panel includes genes associated with hereditary PGL/PCC.

Brain and nervous system (including central nervous system (CNS) and peripheral nervous system (PNS)
The general population risk for developing a CNS tumor is 0.55%–0.69%. PNS tumors are rare in adults and children while CNS tumors are the most common cancers among children ages 0–19. Approximately 5% of CNS tumors are hereditary and due to a pathogenic variant (an identifiable change in a gene); the remainder are isolated and occur sporadically. Unlike sporadic cases, both hereditary CNS and PNS tumors may be syndromic and associated with extra-CNS features.

Sarcoma
A sarcoma is a rare type of cancer that develops from a variety of connective tissues, including bone, soft tissue, fat, muscle, nerves, fibrous tissues, blood vessels, and deep skin tissues. Sarcomas most often develop in the limbs, but can be found in any part of the body. Most cases are sporadic and not inherited, but several known hereditary conditions are associated with an increased risk of sarcoma. Inherited pathogenic variants in certain genes, such as those included on this panel, account for some cases of hereditary sarcoma. Individuals with pathogenic variants in these genes have an increased risk of developing sarcomas and, in some cases, other cancers as well.

Myelodysplastic syndrome (MDS)/leukemia
MDS and acute myeloid leukemia (AML) generally occur in the elderly population and the incidence increases with age. Cases of early onset MDS/AML in children or young adults may be associated with underlying genetic predisposition syndromes. Hereditary MDS or AML may occur due to certain genetic syndromes that are typically associated with other distinctive, characteristic features. Isolated familial MDS/AML is characterized by a strong family history of MDS or AML without other apparent phenotypic features. Isolated familial occurrences appear to be rare, but may be underdiagnosed. This panel includes genes that may increase risk for MDS and leukemia.

Individuals with a pathogenic variant identified by the Invitae Multi-Cancer Panel 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 may manifest with different symptoms, even among family members. Because we cannot predict which cancers may develop, additional medical management strategies focused on cancer prevention and early detection may be beneficial.

For gene-associated cancer risks:

The majority of genes on this panel have autosomal dominant inheritance for hereditary cancer predisposition. Several of these genes also have autosomal recessive inheritance, or result in clinically distinct autosomal recessive conditions. For detailed, gene-specific information, please see the individual gene pages.

This panel may be considered for individuals with:

  • a personal or family history presenting with multiple cancer types that could fit the features of more than one hereditary cancer syndrome
  • a clinical history indicative of a hereditary cancer syndrome but a limited pedigree due to small family size or adoption

There are also some common general features suggestive of a family with hereditary cancer syndrome. 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 (e.g., male breast cancer)

  1. American Society of Clinical Oncology, Cancer. Net Accessed January 2018.
  2. Cancer Research UK, cancerresearchuk.org. Accessed January 2018.
  3. Desmond, A, et al. Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. JAMA Oncol. 2015; :None. PMID: 26270727
  4. Hall, MJ, et al. Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw. 2014; 12(9):1339-46. PMID: 25190699
  5. Hampel, H, et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet. Med. 2015; 17(1):70-87. doi: 10.1038/gim.2014.147. PMID: 25394175
  6. Kurian, AW, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J. Clin. Oncol. 2014; 32(19):2001-9. PMID: 24733792
  7. LaDuca, H, et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet. Med. 2014; 16(11):830-7. PMID: 24763289
  8. Malkin, D, et al. Predisposition to pediatric and hematologic cancers: a moving target. Am Soc Clin Oncol Educ Book. 2014; :e44-55. PMID: 24857136
  9. National Cancer Institute, Cancer.gov, Accessed January 2018.
  10. Robson, ME, et al. American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J. Clin. Oncol. 2015; 33(31):3660-7. PMID: 26324357

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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

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
ALK NM_004304.4
APC* NM_000038.5
ATM NM_000051.3
AXIN2 NM_004655.3
BAP1 NM_004656.3
BARD1 NM_000465.3
BLM NM_000057.3
BMPR1A* NM_004329.2
BRCA1* NM_007294.3
BRCA2* NM_000059.3
BRIP1 NM_032043.2
CASR NM_000388.3
CDC73 NM_024529.4
CDH1 NM_004360.3
CDK4 NM_000075.3
CDKN1B NM_004064.4
CDKN1C NM_000076.2
CDKN2A* NM_000077.4; NM_058195.3
CEBPA NM_004364.4
CHEK2 NM_007194.3
CTNNA1 NM_001903.3
DICER1 NM_177438.2
DIS3L2 NM_152383.4
EGFR* NM_005228.3
EPCAM* NM_002354.2
FH NM_000143.3
FLCN NM_144997.5
GATA2 NM_032638.4
GPC3 NM_004484.3
GREM1* NM_013372.6
HOXB13* NM_006361.5
HRAS NM_005343.2
KIT NM_000222.2
MAX NM_002382.4
MEN1 NM_130799.2
MET NM_001127500.1
MITF* NM_000248.3
MLH1* NM_000249.3
MSH2* NM_000251.2
MSH3 NM_002439.4
MSH6 NM_000179.2
MUTYH NM_001128425.1
NBN NM_002485.4
NF1 NM_000267.3
NF2 NM_000268.3
NTHL1* NM_002528.6
PALB2 NM_024675.3
PDGFRA NM_006206.4
PHOX2B* NM_003924.3
PMS2 NM_000535.5
POLD1 NM_002691.3
POLE NM_006231.3
POT1 NM_015450.2
PRKAR1A NM_002734.4
PTCH1 NM_000264.3
PTEN* NM_000314.4
RAD50 NM_005732.3
RAD51C NM_058216.2
RAD51D NM_002878.3
RB1 NM_000321.2
RECQL4 NM_004260.3
RET NM_020975.4
RUNX1 NM_001754.4
SDHA* NM_004168.3
SDHAF2 NM_017841.2
SDHB NM_003000.2
SDHC NM_003001.3
SDHD NM_003002.3
SMAD4 NM_005359.5
SMARCA4 NM_001128849.1
SMARCB1 NM_003073.3
SMARCE1 NM_003079.4
STK11 NM_000455.4
SUFU NM_016169.3
TERC NR_001566.1
TERT NM_198253.2
TMEM127 NM_017849.3
TP53* NM_000546.5
TSC1 NM_000368.4
TSC2 NM_000548.3
VHL NM_000551.3
WRN* NM_000553.4
WT1 NM_024426.4

APC: The 1B promoter region is covered by both sequencing and deletion/duplication analysis. The 1A promoter region is covered by deletion/duplication analysis.
BMPR1A: Deletion/duplication analysis covers the promoter region.
BRCA1: Sequence analysis includes +/- 20 base pairs of adjacent intronic sequence.
BRCA2: Sequence analysis includes +/- 20 base pairs of adjacent intronic sequence.
CDKN2A: Analysis supports interpretation of the p14 and p16 proteins.
EGFR: Analysis is limited to the NM_005228.3: c.2369C>T (p.Thr790Met), c.2327G>A (p.Arg776His), c.2527G>A (p.Val843Ile) variants.
EPCAM: Analysis is limited to deletion/duplication analysis.
GREM1: Analysis of this gene is limited to deletion/duplication analysis of the promoter region.
HOXB13: Analysis is limited to the NM_006361.5:c.251G>A, p.Gly84Glu variant.
MITF: Analysis is limited to the NM_000248.3:c.952G>A p.Glu318Lys variant.
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
NTHL1: Deletion/duplication analysis is not offered for this gene.
PHOX2B: Alanine repeat numbers for the commonly expanded region in exon 3 are not determined.
PTEN: Deletion/duplication analysis covers the promoter region.
SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.
TP53: Deletion/duplication analysis covers the promoter region.
WRN: Deletion/duplication analysis is not offered for exons 10 or 11.

Clinical resources
Genes and associated cancers chart Hereditary cancer gene list Hereditary cancer risks and references chart Invitae brochure
Patient resources
Patient guide: Genetic testing for hereditary cancer Patient guide: Genetic testing simplified Patient guide: Hereditary breast cancer Patient guide: Hereditary colorectal cancer
Test information
Forms page Specimen requirements page

References

  1. American Society of Clinical Oncology, Cancer. Net Accessed January 2018.
  2. Cancer Research UK, cancerresearchuk.org. Accessed January 2018.
  3. Desmond, A, et al. Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. JAMA Oncol. 2015; :None. PMID: 26270727
  4. Hall, MJ, et al. Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw. 2014; 12(9):1339-46. PMID: 25190699
  5. Hampel, H, et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet. Med. 2015; 17(1):70-87. doi: 10.1038/gim.2014.147. PMID: 25394175
  6. Kurian, AW, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J. Clin. Oncol. 2014; 32(19):2001-9. PMID: 24733792
  7. LaDuca, H, et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet. Med. 2014; 16(11):830-7. PMID: 24763289
  8. Malkin, D, et al. Predisposition to pediatric and hematologic cancers: a moving target. Am Soc Clin Oncol Educ Book. 2014; :e44-55. PMID: 24857136
  9. National Cancer Institute, Cancer.gov, Accessed January 2018.
  10. Robson, ME, et al. American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J. Clin. Oncol. 2015; 33(31):3660-7. PMID: 26324357

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