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Genomics

Measures quantitatively the essential genes of the cell and allows haplotyping and single nucleotide polymorphism detection.

Uses high through put assessment of mRNA, protein expression and genetic polymorphisms.

Robotics utilized to apply thousand of cDNA sequences or oligonucleotides to chips that may contain more than 30,000 sequences.

Above microarray approach can convert and hybridize mRNA to DNA sequences on the chip.

Micro array analysis identifies breast tumors with distinct patterns of gene expression that are termed basal and luminal types and they differ with respect to the outcome of disease inpatients with advanced local breast cancer.

Analysis of single tumor biopsy specimen underestimates mutational burden of heterogenous tumors.

High tumor mutation burden is associated with the responses to PD-1inhibitors.

Prosigna Breast Cancer Prognostic Gene Signature Assay

The Prosigna Breast Cancer Prognostic Gene Signature Assay (formerly called the PAM50 test), made by NanoString, is a genomic test that analyzes the activity of certain genes in early-stage, hormone-receptor-positive breast cancer.

May be used to help make treatment decisions based on the risk of distant recurrence for postmenopausal women within 10 years of diagnosis of early-stage, hormone-receptor positive disease with up to three positive lymph nodes after 5 years of hormonal therapy treatment.

Can categorize breast cancer into luminal A, luminal B, HER2 and basal subtypes.

The Prosigna is used on breast cancers diagnosed in postmenopausal women that are:

stage I or stage II and lymph node-negative

stage II with one to three positive nodes

hormone-receptor-positive

invasive

have been treated with surgery and hormonal therapy

The Prosigna assay is performed on preserved tissue that was removed during the original biopsy or surgery.

The assay looks at the activity of 58 genes to estimate the risk of distant recurrence of hormone-receptor-positive breast cancer from 5 to 10 years after diagnosis after 5 years of hormonal therapy treatment in postmenopausal women.

The Prosigna assay results are reported as a risk of recurrence (ROR) score from 0 to 100 in two ways:

node-negative cancers pare classified as low (0-40), intermediate (41-60), or high (61-100) risk node-positive cancers are classified as low (0-40) or high (41-100) risk.

Prosigna assay, helps to determine whether to continue hormonal therapy for 5 more years by using data,

age

the size of the cancer

cancer grade

lymph node involvement.

The PAM50-based risk of recurrence (ROR) score enabled selection of a subset of patients with estrogen receptor (ER)–positive about

The Breast Cancer Index test is used to predict the risk of node-negative, hormone-receptor-positive breast cancer coming back 5 to 10 years after diagnosis.

The EndoPredict test is used to predict the risk of distant recurrence of early-stage, hormone-receptor-positive, HER2-negative breast cancer that is either node-negative or has up to three positive lymph nodes.

The MammaPrint test is used to predict the risk of recurrence within 10 years after diagnosis of stage I or stage II breast cancer that is hormone-receptor-positive or hormone-receptor-negative.

The Mammostrat test is used to predict the risk of recurrence of early-stage, hormone-receptor-positive breast cancer.

The Oncotype DX test is used to predict the risk of recurrence of early-stage, hormone-receptor-positive breast cancer, as well as how likely it is that a woman diagnosed with this type of cancer will benefit from chemotherapy after surgery.

The Oncotype DX DCIS test is used to predict the risk of recurrence of DCIS and/or the risk of a new invasive cancer developing in the same breast, as well as how likely it is that a woman diagnosed with DCIS will benefit from radiation after surgery.

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