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Home Colorectal
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Colorectal

What do we offer?

  • icono de laboratorioDetection of genes involved in predisposition to cancer: Colorectal - and other related cancers: Small intestine - Stomach - Endometrium - Pancreatic - Uterus - Kidney - Thyroid - Sarcoma - Gastrointestinal - Genitourinary - Familial Adenomatous Polyposis - Juvenile polyposis syndrome - Lynch syndrome - Cowden syndrome - Peutz-Jeghers syndrome
  • icono de asesoramiento facultativoCounselling by a specialist before and after the analysis
  • icono de la muestraSample type: Collection of saliva through an oral swab
  • icono de tiempoResults in: 30 days*
  • 950 **
  • * Labour days counting from reception of the sample at the laboratory.
    ** Shipping charges included in peninsular Spain. Not included in Islands.

elige tu test genético

Why should you request this service?

What is the purpose of this analysis?

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  • To detect if your DNA predisposes you to suffer this cancer.

  • If you suffer from a cancer, to detect if it will be pass on to your offspring and to customize your treatment.

Should you do it?

>
  • You are healthy but have a family history:

    • 3 or more parents in the first degree (parents, children and siblings) or second degree (grandparents, uncles and aunts) who have suffered from the same cancer.

    • 2 first or second-degree parents with cancer at a relatively young age.

    • Family history of hereditary predisposition to cancer.

  • You are in good health and have no family history as part of a screening. It is highly recommended from the age of 50.

How does it work?

  1. elige tu test genético
    Choose your analysis and a healthcare professional will contact you in 48 hours
  2. frotis bucal para análisis
    You will receive a sample collector kit at home that will be picked up by a courier
  3. instrucciones de uso
    One of our partner labs will proceed to make the analysis
  4. instrucciones de uso
    Your healthcare professional will present your results by videoconference
go further

To go further:


Subtitles available in both English and French

Do you need more information?

  • What are the genes studied and what does it mean?>
      GEN What are the genes studied and what does it mean? What are the genes studied and what does it mean? SYNDROME RISK*
      APC 611731 RISK* Familial adenomatous polyposis 99%; 4-12%
      BMPR1A 601299 Colorectal stomach and pancreas Juvenile polyposis syndrome 50%; 21%; >1%
      CDH1 192090 Colorectal breast, gastric Diffuse gastric cancer syndrome >3.4%; 83%; 52%
      CHEK2 604373 Colorectal breast Colorectal breast, gastric >3.4%; 48%
      EPCAM 185535 Colorectal, endometrial or other Lynch Syndrome/td> 82%; 60%
      MLH1 120436 Colorectal, endometrial or other Lynch Syndrome Lynch Syndrome
      GREM1 120436 colorectal Hereditary mixed polyposis >3.4%
      MSH2 609309 Colorectal, endometrial or other Lynch Syndrome 82%; 60%
      MSH6 600678 Colorectal, endometrial or other Lynch Syndrome 82%; 60%
      MUTYH 604933 colorectal Muted polyposis 10%
      PMS2 600259 Colorectal, endometrial or other Lynch Syndrome 20%; 15%
      POLD1 612591 colorectal Polypose associated with polymerase (verification) >3.4%
      POLE1 615083 colorectal Polypose associated with polymerase (verification) >3.4%
      PTEN 601728 Polypose associated with polymerase (verification) Cowden Syndrome 50%; 85%; 28%
      SMAD4 600993 Colorectal gastric pancreas Juvenile polyposis syndrome 50%; 21%; >1%
      STK11 602216 Colorectal, intestine, small intestine or other Peutz-Jeghers Syndrome 39%; 13%
      TP53** 191170 Colorectal, breast, other Li-Fraumeni Syndrome >3.4%; >10%
      * Maximum risk of developing a tumor throughout the life of the carriers of pathogenic mutations.
  • How to interpret the results?>
      POSITIVE NEGATIVE UNCERTAIN
      A mutation has been identified in a gene, which results in greater susceptibility to the disease. No mutation has been identified in the gene, so there is less risk that the patient will contract the disease. A genetic variant whose meaning is currently unknown has been identified.
      Increased risk Moderate risk Moderate risk but the patient must be monitored
  • Sensitivity and Specificity>

      These genes are analyzed by NGS techniques in combination with conventional approaches to molecular genetics when necessary. With this analysis, it is possible to detect point mutations in exons, in deep intronic regions (up to 45bp), in the untranslated regulatory regions of breast cancer-associated genes, as well as in some structural variants.
      However, this examination has some limitations, it is mainly known to present a high sensitivity and specificity (> 99%) as to the variations of simple nucleotides and small indels up to 9 nucleotides. Structural variants that affect only one exon present in coding exon genes may not be detected. For the rest of the major structural variants, the detection rate can reach up to 95%. The analysis of the structural variants of exons 13, 14 and 15 of the PMS2 gene is not carried out, because of the existence of a sequence very homologous to certain exons of the pseudogene PMS2CL.

  • Guidelines>
    • Asociación Española Contra el Cáncer: https://www.aecc.es/es/todo-sobre-cancer/tipos-cancer/cancer-colon/evolucion-cancer-colon
    • Hampel H. Genetic testing for hereditary colorectal cancer. Surgical Oncology Clinics of North America. 2009;18(4):687-703
    • Buttin, B. M., et al. Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. Am. J. Hum. Genet. 74: 1262-1269, 200
    • Chan, T. L., et al. Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. Nature Genet. 38: 1178-1183, 2006.
    • Frebourg, T., et al. Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. Proc. Nat. Acad. Sci. 89: 6413-6417, 1992.
    • Online Mendelian Inheritance in Man, OMIM®. McKusick- Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), {24/04/2018}. World Wide Web URL: https://omim.org/

Any questions?

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