Breast and ovarian cancers

DNA test for hereditary breast and ovarian cancer risk detection

Around 20% of all malignant tumours are inherited, which suggests that their development and progression depends on genetic mutations. Each type of hereditary cancer has its own mutations. As a result, the risk for malignant tumours increases up to 20 times.

 

The test is advisable for people who have a family history of:

  • at least two breast and ovarian cancers among first and second degree female blood relatives;

  • a breast cancer diagnosis of a female relative under 40;

  • a diagnosis of ovarian cancer in a female relative under 50;

  • a breast or ovarian cancer diagnosis in any female relatives at any age;

  • a breast cancer diagnosis in any male relatives.

 

Description of the test

Mutations in the BRCA1 gene. It has been observed that different populations have different patterns of mutation polymorphism. The four most common mutations in the Latvian population are provided below:

  • exon 20 – mutation 5382insC;

  • exon 2 – mutation 185delAG;

  • exon 5 – mutation 300T>G;

  • fragment of exon 11 – mutation 4154delA.

 

Diagnostics: DNA test

PCR (four fragment amplification) followed by DNA sequencing

 

Required samples

1–3 mL of peripheral blood (with an anticoagulant) or a saliva sample (a swab taken from oral mucosa)

 

Benefits:

  • Early detection of predisposition for breast/ovarian cancers

  • For women – timely preventive care

  • For oncologists – choice of the optimum therapy, increased attention to family history of tumours, possibility of prevention or timely detection of recurrences

  • Exclusion of mutations in family members who have not inherited them

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