BRCAMap

What is BRCAMap ?

Almost 12% of women in the general population develop breast cancer during their lifetime. In India, almost 1 in 28 women are diagnosed with breast cancer1

BRCAMap is a targeted next generation sequencing(NGS) Panel for BRCA 1 & BRCA 2 full gene sequencing to assess the BRCA mutations that are responsible for the majority of hereditary breast and ovarian cancers.

BRCAMap can be performed on somatic samples(tissue samples) if the patient is currently diagnosed with cancer or Germline samples(Blood) for the patients who are at risk of developing cancer.


Almost 12% of women in the general population develop breast cancer during their lifetime. In India, almost 1 in 28 women are diagnosed with breast cancer1

BRCAMap is a targeted next generation sequencing(NGS) Panel for BRCA 1 & BRCA 2 full gene sequencing to assess the BRCA mutations that are responsible for the majority of hereditary breast and ovarian cancers.

BRCAMap can be performed on somatic samples(tissue samples) if the patient is currently diagnosed with cancer or Germline samples(Blood) for the patients who are at risk of developing cancer.


BRCA testing for breast cancer

BRCA genes are popularly known as breast cancer, early onset genes. They are “tumor suppressors'' in nature. BRCA genes repair damages or double stranded breaks in DNA and restore genomic integrity of human cells. Hence they play a vital role in maintaining normal cell growth in the body .

Harmful mutations or changes in the two genes have been associated with increased risk of cancers. Most common types of cancers with BRCA in women include breast and ovarian. Defective BRCA genes account for nearly 5-10% of breast cancer cases, while the rest are sporadic in nature.

Who should be tested ?

  • Strong family history of breast, ovarian, fallopian tube, peritoneal, prostate, or pancreatic cancer (BRCA1&2 mutations are inherited, family members with either BRCA1 or BRCA2 mutations usually share the same mutation.)
  • Personal history of Breast/ovarian cancers and meets the criteria related to : age of diagnosis, type of cancer/Bilateral Cancers ancestry.
  • Personal/family history of ovarian, fallopian tube, or primary peritoneal cancer.
  • History of breast cancer in Males.
  • A relative with a known deleterious mutation in BRCA1 or BRCA2 genes.
  • Ashkenazi Jewish or Eastern European ancestry.

Test specification

                                                                                                  
Technique PlatformCoverageVariant typesTATSample requirements
NGS700 - 800XSNV 4 - 5 weeks FFPE (Formalin-Fixed Paraffin-Embedded) Sample - Somatic cases, Blood Sample - Germline cases

References:

  1. https://timesofindia.indiatimes.com/blogs/poverty-of-ambition/breast-cancer-in-india
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