Invitae Breast Cancer STAT Panel

  • Test code: 50001
  • Turnaround time:
    8-12 calendar days
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    Saliva is accepted gDNA is not accepted
  • Sample requirements
  • Request a sample kit

Test description

The Invitae STAT Breast Cancer Panel includes seven well-established genes that are associated with a significantly increased risk of developing breast cancer. All genes on this panel have published medical management guidelines and are associated with defined hereditary cancer syndromes. These are the same 7 genes that were previously available as the Invitae Breast Cancer High-Risk Panel.

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 mutation have a higher risk of another breast cancer and may choose more aggressive surgery and/different treatment options due to the genetic testing results.

After receiving the STAT report, clinicians may re-requisition additional genes within the cancer clinical area within 90 days at no additional charge.

This test is appropriate for breast cancer patients with upcoming cancer-related breast surgeries and/or treatment where hereditary genetics may inform decisions such as lumpectomy versus mastectomy, or single versus double mastectomy, use of other treatments (such as use of PARP inhibitors or other chemotherapy regimens). 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.

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Primary panel (7 genes)


PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

  • 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 mutations 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.

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
BRCA1 NM_007294.3
BRCA2 NM_000059.3
CDH1 NM_004360.3
PALB2 NM_024675.3
PTEN* NM_000314.4
STK11 NM_000455.4
TP53* NM_000546.5

PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.