Invitae Breast Cancer STAT Panel

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  • Test code: 50001
  • Turnaround time:
    5–12 calendar days (7 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    Saliva is accepted; assisted saliva and DNA are not accepted
  • Sample requirements
  • Request a sample kit
Billing

Test description

The Invitae Breast Cancer STAT Panel includes up to 9 well-established genes that are associated with a significantly increased risk of developing breast cancer. Accelerated turnaround time (TAT) is needed because physicians and patients often want to make surgical and management decisions as quickly as possible. Individuals who are identified with an inherited pathogenic variant have a higher risk of developing another breast cancer and may choose more aggressive surgery and/or different treatment options based on genetic testing results.

All genes on this panel have published medical management guidelines and are associated with defined hereditary cancer syndromes.

This test is appropriate for breast cancer patients with upcoming cancer-related breast surgeries and/or treatment where genetic testing may inform decisions such as lumpectomy versus mastectomy, single versus double mastectomy, or use of other treatments (such as use of PARP inhibitors or other chemotherapy regimens). Identification of a disease-causing variant may also guide testing and management 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.

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Primary panel (7 genes)

BRCA1 BRCA2 CDH1 PALB2 PTEN STK11 TP53

BRCA1: Sequence analysis includes +/- 20 base pairs of adjacent intronic sequence.
BRCA2: Sequence analysis includes +/- 20 base pairs of adjacent intronic sequence.
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

Add-on ATM Gene (1 gene)

ATM can be added at no additional charge with the same turnaround time.

ATM

Add-on CHEK2 Gene (1 gene)

CHEK2 can be added at no additional charge with the same turnaround time.

CHEK2

Alternative tests to consider

The BRCA1 and BRCA2 genes can be ordered alone with the Invitae BRCA1 and BRCA2 STAT Panel. Report delivery is guaranteed within 5-12 calendar days (7 days on average) of Invitae receiving the sample.

  • Cowden and Cowden-like syndrome
  • hereditary breast and ovarian cancer syndrome (HBOC)
  • hereditary diffuse gastric cancer syndrome (HDGC)
  • Li-Fraumeni syndrome (LFS)
  • Peutz-Jeghers syndrome (PJS)

The average woman’s lifetime risk of developing breast cancer is 12%. Most cases are sporadic and not inherited; however, approximately 5%-10% of breast cancer is hereditary and due to a pathogenic variant in a disease-causing gene. Pathogenic variants in BRCA1 or BRCA2 account for the majority of hereditary breast and ovarian cancer cases in individuals with a strong family history or an early-onset diagnosis.

The other genes on this panel are also associated with hereditary breast cancer, and their inclusion is expected to increase the clinical sensitivity of this test. Individuals with a pathogenic variant in one of these genes have a significantly increased risk of developing cancer, and many of these cancers may be difficult both to detect and to treat. Identifying those with an underlying hereditary cancer syndrome enables implementation of surgical and/or treatment decisions at the time of diagnosis. These efforts may also result in risk-reduction and early diagnosis of other cancers, increasing the chances of successful treatment and survival.

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, download our Cancer risk poster.

All of the genes on this panel have autosomal dominant inheritance for hereditary breast cancer. The BRCA2 and PALB2 genes are also associated with autosomal recessive Fanconi anemia. The ATM gene is associated with autosomal recessive ataxia-telangiectasia.

This panel comprises genes for which there are established medical management guidelines. It may be considered for individuals with a personal and/or family history of:

  • breast, ovarian, uterine/endometrial, colon, pancreatic, melanoma, sarcoma, and/or prostate cancer, particularly if early onset (<50 years)
  • 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 (e.g., male breast cancer)

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
CDH1 NM_004360.3
CHEK2 NM_007194.3
PALB2 NM_024675.3
PTEN* NM_000314.4
STK11 NM_000455.4
TP53* NM_000546.5

BRCA1: Sequence analysis includes +/- 20 base pairs of adjacent intronic sequence.
BRCA2: Sequence analysis includes +/- 20 base pairs of adjacent intronic sequence.
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.