Genetic

Statistics

Around
313,959 new
ovarian cancer cases
diagnosed every year -
207,252 deaths
worldwide annually

Around
2,261,419 new
breast cancer cases
diagnosed every year -
684,996 deaths
worldwide annually

Around
1,414,259 new
prostate cancer cases
diagnosed every year -
375,304 deaths
worldwide annually

Source : Globocan 2020

Importance of Genetic Testing

Inherited genetic mutation is the most significant risk factor for Ovarian, Breast and Prostate cancer.

About 20-25% of women diagnosed with ovarian cancer have a hereditary tendency to develop the disease.

BRCA1 and BRCA2 genes are normally protective against cancer. But mutations can occur in these genes which increases the risk of developing tumor in the body.

Including genetic testing as standard-of-care may prevent delays in time-to-testing and improves patient treatment.

The only way to know if you have a BRCA mutation is to get tested

Types of Genetic Testing

Germline Mutation Testing

Testing for gene mutations which are passed on from parents to offspring.

Sample Type –

Blood sample (preferred), saliva, or cheek swab

Somatic Mutation Testing

Testing of mutations that are acquired after birth and are present only in the cancer cells

Sample Type –

Tumor Tissue (FFPE) Block

How HRR and HRD testing work?

In healthy cells, DNA damage are repaired via 2 key pathways: (1) homologous recombination repair (HRR), or (2) non-homologous end joining (NHEJ).

HRR is a high-ﬁdelity, accurate pathway that restores the original DNA sequence by using a matched DNA strand template for the repair process.

HRD describes a tumor that has an impaired ability to repair DNA double strand breaks through HRR (Homologous Recombination Repair).

NCCN Clinical Practice Guidelines in Oncology recommends germline (blood) and somatic (tumor block) testing for BRCA 1/2 mutations for all patients with pathologically confirmed ovarian, fallopian tube, or primary peritoneal cancer.

Available tests for Screening and Risk Assessment

Test Name	Components (Genes)	Sample Type	Methodology
BRCA Mutation Testing (Germline and Somatic)	BRCA 1 & BRCA 2	Blood and FFPE	Next Generation Sequencing
Homologous Recombination Repair (Germline and Somatic)	ATM, MRE11, BARD1, NBN, BRCA1, PALB2, BRCA2, PPP2R2A, BRIP1, RAD51B, CDK12, RAD54L, CHEK2, TP53, FANCD2, RAD51C, RAD51D	Blood and FFPE	Next Generation Sequencing
Homologous Recombination Deficiency	Genetic Instability + HRR Pathway genes + BRCA by MLPA	Blood and FFPE	Next Generation Sequencing, Multiplex ligation-dependent probe amplification