Rationale for BRCA testing

Inform treatment

BRCA mutations are predictive of sensitivity to platinum-based chemotherapy and response to PARP inhibition

Platinum-based chemotherapy

Ovarian cancer patients who harbour a BRCA1/2 mutation are more likely to respond to platinum-based chemotherapy compared to those who do notREF

Platinum sensitivity at first line treatment after surgery by BRCA 1/2 mutation status in women with ovarian cancerREF

Platinum sensitivity enriches for BRCA mutations

  • A platinum sensitive patient population has a higher prevalence of BRCA mutations (germline & somatic) than a platinum resistant populationREF
  • Its not that new germline BRCA mutations are attained, but patients with a germline BRCA mutation are more likely to respond to platinum based chemotherapyREF
  • There is an enrichment of somatic BRCA mutations amongst a population without germ-line mutations who respond to multiple lines of platinum-based treatment. They are predicted to exhibit improved platinum sensitivity and improved survival compared to those without a mutationREF

Percentage BRCA1/2 mutations (germline + somatic) in different ovarian cancer patient populationsREF

Poly-adenosine diphosphate ribose polymerase (PARP) inhibition

  • Treatment with a poly-adenosine diphosphate ribose polymerase (PARP) inhibitor has been shown to significantly extend progression free survival compared with placebo in women with BRCA-mutated, platinum-sensitive ovarian cancerREF
  • A number of PARP inhibitors are either licensed or in development for the treatment of women with ovarian cancerREF

Aid prognosis

Among women with ovarian cancer, those harbouring BRCA mutations have a better prognosis than those who do not

  • A meta-analysis has demonstrated that both BRCA1 and BRCA2 mutation carriers had better OS and PFS than non-carriers, regardless of tumour stage, grade or histologic subtypeREF
  • Germline mutations in BRCA1 or BRCA2 were associated with improved 5-year overall survival in women with ovarian cancer compared to non-carriersREF

BRCA testing at diagnosis allows quick establishment of the patients BRCA status, helping clinicians make informed and timely clinical management decisionsREF

Kaplan-Meier estimates of cumulative 5-year survival in women with ovarian cancer according to germline BRCA1/2 statusREF

Identify unaffected carriers

The results of BRCA testing in a woman with ovarian cancer can help to identify family members at risk

Women who harbour a BRCA1 or BRCA2 mutation are more likely to suffer from ovarian cancer or breast cancer in their lifetime than those without BRCA mutationsREF

Having a relative who has ovarian cancer with a BRCA1/2 mutation can provide the first alert for BRCA testing of unaffected family membersREF

  Lifetime risk for developing cancer Estimated average cumulative risk by age 70 in BRCA carriers
  General female population Women harbouring BRCA1 mutationREF Women harbouring BRCA2 mutationREF
Breast 12.4%REF 65%
(95% CI 44-78)
(95% CI 31-56)
Ovarian 1.3%REF 39%
(95% CI 18-54)
(95% CI 2.4-19)

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