Breastcancer/ovarian cancer BRCA1/2 genetic test

Hereditary breast–ovarian cancer syndromes (HBOC) are cancer syndromes that produce higher than normal levels of breast cancer and ovarian cancer in genetically related families. Approximately 5%-10% of breast cancer cases are heriditary breast cancer and 80% of which are caused by mutations in the BRCA1 or/and BRCA2 genes. Individuals who carry a mutation in either the BRCA1 or BRCA2 gene have an 87 percent risk of developing breast cancer by age 70 and elevated risk of developing a second cancer if having already been diagnosed with cancer.

Why get tested?


Individuals suspected of having HBOC syndrome are characterized by genetic test. If individuals carry mutation in the BRCA1 or/and BRCA2, he/she will have the time to work with healthcare provider or physicians to make choices that feel right for him/her:



Diagnosis and Treatment Decisions

The test provides important information that can aid diagnosis and management, for instance whether to have conservative or radical surgery. Radiotherapy and chemotherapy may be also altered. For example, platinum based therapies are not standard treatment for breast cancer but can have utility in BRCA carriers

Targets drugs

Germline or somatic mutations of BRCA1 or/and BRCA2 affect doctors' choice for PARP inhibitors like olaparib.

Screening and Prevention

Identifying a caner predisposition genes mutation can provide a window of opportunity to implement surveillance and/or risk-reducing measures that mitigate or prevent cancer. For example, individuals who carry BRCA1 or/and BRCA2 mutations can take several prevention measures, such as getting checked earlier and more frequently, taking preventative surgery, preventative medication or genetic counseling before birth, to reduce cancer risk.

Test content

CloudHealth provides genetic test of all exons of BRCA1 and BRCA2 genes based on next-generation sequencing technology and assesses variants through bioinformatics analysis and the latest standards and guidelines for the interpretation of variants.

Process



Sample collection

EDTA anticoagulative tube for 3-5 mL peripheral blood; mouth swabs for oral mucosa cells; saliva collection for saliva.

Test and analysis

Turnaround time from sample receipt to report issue is 25 days.

Issuing Reports

Issuing report and providing genetic counseling.

Advantages


Advanced technology

The target region covers all coding exons of BRCA1 and BRCA2 genes.

Highly accuracy

Deep sequencing and rigorous analyzing process

Accurate interpretation

Assessment of variants according to international authoritative database

For population


According to NCCN Guidelines version 2017, considering BRCA1 and BRCA2 genetic test if:



Patients with breast cancer, ovarian cancer (female), pancreatic cancer and prostate cancer (male)

  • Personal history of breast cancer + one or more of the following:
  • Diagnosed ≤ 45 y
  • Diagnosed ≤ 50 y with:
    • An additional breast cancer primary
    • ≥1 close blood relative with breast cancer at any age
    • ≥1 close relative with pancreatic cancer
    • ≥1 relative with prostate cancer (Gleason score ≥7)
    • An unknown or limited family history
  • Diagnosed ≤60 y with:
    • Triple negative breast cancer
  • Diagnosed at any age with:
    • ≥2 close blood relatives with breast cancer, pancreatic cancer, or prostate cancer (Gleason score ≥7) at any age
    • ≥1 close blood relative with breast cancer diagnosed ≤50 y
    • ≥1 close blood relative with ovarian carcinoma
    • A close male blood relative with breast cancer
    • For an individual of ethnicity associated with higher mutation frequency (eg, Ashkenazi Jewish) no additional family history may be required
  • Personal history of ovarian carcinoma
  • Personal history of male breast cancer
  • Personal history of prostate cancer (Gleason score ≥7) at any age with ≥1 close blood relative with ovarian carcinoma at any age or breast cancer ≤50 y or two relatives with breast, pancreatic, or prostate cancer (Gleason score ≥7) at any age
  • Personal history of pancreatic cancer at any age with ≥1 close blood relative with ovarian carcinoma at any age or breast cancer ≤50 y or two relatives with breast, pancreatic, or prostate cancer (Gleason score ≥7) at any age
  • BRCA1/2 mutation detected by tumor profiling in the absence of germline mutation analysis

Individual from a family with known deleterious BRCA1/BRCA2 gene mutation

  • Personal history of pancreatic cancer and Ashkenazi Jewish ancestry
  • BRCA1/2 mutation detected by tumor profiling in the absence of germline mutation analysis
  • Family history only (significant limitations of interpreting test results for unaffected individual should be discussed):
    • First- or second-degree blood relative meeting any of the above criteria
    • Third-degree blood relative who has breast cancer and/or ovarian carcinoma and who has ≥2 close blood relatives with breast cancer (at least one with breast cancer ≤50 y) and/or ovarian carcinoma