What is BRCA Testing?

A blood test that helps assess your chances of developing cancer by detecting a potentially harmful change (mutation) in the BRCA1 and BRCA2 genes.

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Prevalence

By 2025, over 2,00,000 cases of breast cancer and nearly 50,000 cases of ovarian cancer are estimated to be reported in India
Familial breast cancer comprises approximately 20% to 30% of all breast cancer cases
Approximately 7% of all breast cancer and 15% of all ovarian cancer cases are caused by harmful mutations in the BRCA1 and BRCA2 genes

Common cancers for which predisposition can be assessed

Female and male breast cancer Ovarian cancer (including cancer of the fallopian tube and primary peritoneal cancers)
Prostate Cancer
Pancreatic Cancer
Melanoma

The exact cancer risks differ slightly depending on whether Hereditary Breast and Ovarian Cancer (HBOCP is caused by a BRCA1 or BRCA2 pathogenic variant.

Why do you need the test?

Specific inherited mutations in BRCA1 and BRCA2 are known to increase the risks of breast and ovarian cancer.

The BRCA1 and BRCA2 gene testing are used for:

Assessing hereditary cancer risk
Helps the clinician in treatment decisions to decide on preventive measures
For those individuals who are already affected with cancer and are carriers of inherited pathogenic BRCA mutations, helps in targeted therapy decision using PARP inhibitors
Improving overall survival through early detection

brca gene test

Who needs to get tested?

Individuals with a personal or family history (1^st, 2^nd, or 3^rd-degree relative in either lineage) are predisposed towards BRCA1 and BRCA2 associated HBOC. Here’s what you need to consider before getting the test done:

A personal history of breast or ovarian cancer diagnosed at a young age (premenopausal), bilateral breast cancer (affecting both breasts), or the presence of both ovarian and breast cancer
A family history of breast, ovarian, fallopian tube, peritoneal, prostate, or pancreatic cancer
A male family member having breast cancer
A relative with a known deleterious mutation in BRCA1 or BRCA2 genes
A history of breast/ovarian cancer diagnosed below the age of 45 years
A family member with bilateral breast cancer below the age of 50
An individual with triple-negative breast cancer below the age of 60 years with or without a family history
Two or more relatives with ovarian cancer
An Ashkenazi Jewish ethnicity
Breast and ovarian cancers in either the same woman or the same family

Why MedGenome?

NGS-based- Uses Next Generation Sequencing based genomics and DNA analysis to identify multiple harmful mutations

Mutations-covered- Covers Single Nucleotide Variations (SNVs), Short Insertions and Deletions (InDels), structural variants, and copy number variations

High accuracy and sensitivity- BRCA1 and BRCA2 genes are covered 100% with the sensitivity and specificity to detect SNVs and InDels being 100%

Genetic Counselling- MedGenome offers a complimentary pre-test and post-test genetic counseling session with qualified professionals who offer unbiased insights into risk, occurrence, and recurrence of genetic disorders in the individual/family

Test Code	Test Name	Method	TAT (Working days)
MGM1513	AIP, ALK, APC, AR, ATM, BAP1, BARDI, BLM BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CD82. CDC73, CDH1, CDK4, CDKNIC, CDKN2A, CEBРА CEP57, CHEK2, CYLD, DDB2, DICER1, DIS3L2 EGFR, ELACZ, ENG, EPCAM, ERCC2 ERCC3, ERCCA, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC FANCD2, FANCE, FANCE, FANCG, FANCL FANCL FANCM, FH, FLCN, GATAZ, GPC3, HRAS, KIT, MAX, MENI, MET, MLH1, MLH3, MRE11A, MSH2. MSH3, MSH6, MSR1, MUTYH, MXII, NBN, NF1, NF2, NSD1 PALB2, PHOX2B, PMS1, PMS2, PRFI, PRKARIA, PTCH1, PTEN, RAD50, RAD51C. RAD51D, RAD54L RB1, RECOLA, RET, RHBDF2, RNASEL, RUNOKI, SBDS, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TGFBR2, TMEM127, TP53, TSCI, TSC2, VHL, WRN, WT1, XPA, XPC, BRCA1 & BRCA2 (MLPA)	Combo test	21

Test Code

Test Name

Method

TAT (Working days)

MGM1513

AIP, ALK, APC, AR, ATM, BAP1, BARDI, BLM BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CD82. CDC73, CDH1, CDK4, CDKNIC, CDKN2A, CEBРА CEP57, CHEK2, CYLD, DDB2, DICER1, DIS3L2 EGFR, ELACZ, ENG, EPCAM, ERCC2 ERCC3, ERCCA, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC FANCD2, FANCE, FANCE, FANCG, FANCL FANCL FANCM, FH, FLCN, GATAZ, GPC3, HRAS, KIT, MAX, MENI, MET, MLH1, MLH3, MRE11A, MSH2. MSH3, MSH6, MSR1, MUTYH, MXII, NBN, NF1, NF2, NSD1 PALB2, PHOX2B, PMS1, PMS2, PRFI, PRKARIA, PTCH1, PTEN, RAD50, RAD51C. RAD51D, RAD54L RB1, RECOLA, RET, RHBDF2, RNASEL, RUNOKI, SBDS, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TGFBR2, TMEM127, TP53, TSCI, TSC2, VHL, WRN, WT1, XPA, XPC, BRCA1 & BRCA2 (MLPA)

Combo test