MOLECULAR STUDY BRCA1, BRCA2 (SEQUENCING + MLPA), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4252

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing / Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Plazo de Entrega:	82 days
Information:
Breast cancer (BC) is the most common cancer in women. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition. Autosomal dominant alterations in two genes, BRCA1 and BRCA2, are likely to account for most familial cases of early-onset BC and/or ovarian cancer (OC), and for 3-4% of all BC. The lifetime risk of developing hereditary BC (HBC) and/or OC can reach 80%. For a given mutation in the susceptibility gene, disease severity and age at onset show great variability within and between BC families, suggesting the involvement of other genetic as well as non-genetic factors. HBC is not associated with specific phenotypic features and diagnosis relies upon the following characteristics: increasing numbers of affected family members through the same bloodline (either maternal or paternal), early onset of disease, an excess of bilateral disease, an association with ovarian cancer (at any age), and occurrence of BC in males. Genetic testing confirms the diagnosis and allows better management of people at high risk of developing BC and/or OC.
Links:
BREAST CANCER - OMIM Result
Orphanet- Hereditary breast and ovarian cancer syndrome
BRCA2 GENE; BRCA2 - OMIM Result
BREAST CANCER 1 GENE; BRCA1 - OMIM Result

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