Hereditary uterine cancer [8 genes]

Syndromes that have a larger predisposition to a higher risk of uterine tumors are Lynch syndrome (25-50%), caused by the mutation of mismatch repair (MMR) genes, such as MLH1, MSH2, MSH6, PMS2, and EPCAM, and Cowden syndrome (5-28%), caused bya mutation in PTEN, with a dominant autosomal inheritance pattern.

It is estimated that currently only 2-5% of uterine cancer cases are hereditary.

Our recommendation is to carry out the hereditary uterine cancer panel that includes the two most frequent syndromes associated with this type of tumor and for which recommended surveillance and risk reduction strategies exist for this type of pathologies.

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Steps to follow
Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

1) Download & fill out

Please cover as many fields as possible in both documents

2) Sample collection

See sample types in the guidelines

3) Pack the sample

Please pack the sample in a way to prevent leakage

4) Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5) Result: the report

Via: e-mail and/or through the customer portal

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Hereditary uterine cancer

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Consentimiento*
Technique: NGS capture panel

Turnaround time (TAT): 15 days

Ref. S-202211924

Updated (dd/mm/yy): 07/10/2025

Hereditary uterine cancer: View panel
  • BRCA1
  • BRCA2
  • EPCAM
  • MLH1
  • MSH2
  • MSH6
  • NBN
  • PMS2

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

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