Suvarna’s Journey with Preventive Diagnostics

33 year old Suvarna (name changed) was happy with her family life until she was diagnosed with Breast Cancer.

Breast cancer is one of the most common hereditary cancers. A woman is at 12% lifetime risk of developing breast cancer[1]. These chances further worsen if the there is BRCA mutation. About 72% of women who inherit a harmful BRCA1 mutation and about 69% of women who inherit a harmful BRCA2 mutation will develop breast cancer by the age of 80[2].

Unaware about these facts, Suvarna was happy spending her time with family. In retrospect, she wishes she knew about the BRCA gene and how there is a specific pattern of hereditary breast and ovarian cancer in her family. She had a family history of cancer with her mother affected with ovarian cancer, maternal aunt affected with breast cancer and maternal cousins with gynaecological malignancy. Her mother was diagnosed with carcinoma ovary – stage IV at the age of 63 and had received 3 cycles of chemotherapy.

The treating clinician observed this pattern and recommended BRCA test to Suvarna. Not to his surprise, Suvarna was found to possess a pathogenic variant in BRCA1 gene. A heterozygous nonsense variation in exon 10 of the BRCA1 gene (chr17:41243941G>G/A; c.3607C>C/T) that results in a stop codon and premature truncation of the protein at codon 1203 (p.Arg1203Ter) was detected. This variation has previously been reported in individuals and families affected with breast and ovarian cancer and has been reported to segregate with disease in one family. Based on the findings, the treating clinician was able to alter the treatment course.

Suvarna’s mother who had Ovarian cancer was also found to harbour the same pathogenic variation. This made a strong case for testing Suvarna’s siblings. However, her two unaffected siblings (aged 36 and 39 yrs) tested negative for this variation.

Summary

• BRCA testing helped a woman understand the risk of hereditary breast and ovarian cancer running in the family. The findings from test result also helped the treatment course
• The outcome of BRCA test also made the family test unaffected individuals, which eased the worry of their higher risk of developing hereditary breast and ovarian cancer when tested negative

1. Howlader N, Noone AM, Krapcho M, et al. (eds). SEER Cancer Statistics Review, 1975-2014, National Cancer Institute. Bethesda, MD,https://seer.cancer.gov/csr/1975_2014/, based on November 2016 SEER data submission, posted to the SEER web site, April 2017.

2. Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 2017; 317(23):2402-2416.

MedGenome is a leading solution provider of clinical genomics which offers genetic testing across various disease areas like neurology, oncology, cardiology, rare inherited diseases, endocrinology, hematology, pre natal, population genomics etc. MedGenome's diagnostics tests include many breakthroughs for genetic diagnostics including liquid biopsy, non-invasive prenatal screening test (NIPT), carrier screening, and whole exome sequencing for cost-effective identification of rare mutations at its CAP certified lab in Bangalore.

Medgenome offers	Test Sample requirements	Required forms	TAT
BRCA1 BRCA2 gene analysis		Test requisition form along with relevant clinical information including pedigree. consanguinity. age of onset, clinical presentation and symptoms	21 working days