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Hereditary cancers

elige tu test genético

What do we offer?

  • icono de laboratorioDetection of genes involved in predisposition to cancer: Breast - Ovary - Uterus - Prostate - Pancreatic - Stomach - Colorectal - Small intestine - Kidney - Duodenal - Melanoma - Neurofibromas - Central nervous syst. - Glioma - Optic - Endometrium - Thyroid - Sarcoma - Leukemias - Gastrointestinal - Genitourinary
  • 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*
  • 815 **
  • * 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?

  • To detect if your DNA predisposes you to suffer any of those cancers.

  • To detect the likelihood of passing cancerous genes on to your offspring and if so to customize your treatment

Should you do it?

  • If any of these premises happen:

    • Family background of cancer diagnosed before age 50.
    • Occurrences of cancer in distinct family members and distinct generations.
    • Individual with multiple primary tumors.
    • An existing pattern of cancer in the family pointing at certain hereditary predispositions (Ex: colorectal cancer and endometrium in Lynch's syndrome).

How does it work?

  1. elige tu test genético
    Select desired analysis and a specialist, then you have a video-consultation.
  2. frotis bucal para análisis
    Receive a sample collector kit at home that will be picked up by a courier.
  3. instrucciones de uso
    One of our partner labs makes the analysis.
  4. instrucciones de uso
    Your healthcare professional presents your results via videoconference.
go further

To go further:

Subtitles available in both English and French

additional information

  • What are the genes studied and what does it mean?
      APC 611731 Colorectal, duodenal, others (AFP)
      ATM** 607585 Breast, pancreas
      BARD1 601593 Breast, ovary *
      BMPR1A 601299 Colorectal stomach and pancreas
      BRCA1** 113705 Breast, ovary, prostate, pancreas
      BRCA2** 600185 Breast, ovary, prostate, pancreas
      BRIP1 605882 Breast, ovary
      CDH1 192090 Breast, stomach, colorectal
      CDK4 123829 Melanoma
      CDKN2A 600160 Melanoma, pancreas
      CHEK2** 604373 Breast colorectal
      EPCAM 185535 Colorectal, uterus, others (S. Lynch)
      MLH1 120436 Colorectal, uterus, others (S. Lynch)
      MRE11A 600814 Mama, ovario*
      MSH2 609309 Colorectal, uterus, others (S. Lynch)
      MSH6 600678 Colorectal, uterus, others (S. Lynch)
      MUTYH 604933 Colorectal, uterus, others (S. Lynch)
      NBN 602667 Breast, ovary *
      NF1 162200 Neurofibromas, CNS, Optic Glioma, PGL / PCC
      PALB2 610355 Breast, pancreas
      PMS2 600259 Colorectal, uterus, others (S. Lynch)
      POLD1 612591 Colorectal endometrium
      POLE1 615083 colorectal
      PTEN 601728 Breast, uterus, kidney, thyroid, colorectal
      RAD50 604040 Breast, ovary *
      RAD51C 602774 Breast, ovary
      RAD51D 602954 Breast, ovary
      SMAD4 600993 Colorectal stomach and pancreas
      STK11 602216 Small intestine, colorectal, pancreas, breast, ovary
      TP53** 191170 Breast, sarcoma, CNS, leukemia, gastrointestinal, genitourinary
      * Possible association of both cancers.
      ** Includes analysis of up to 250 bp of untranslated region (UTR).
  • How to interpret the results?
      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%.

  • Guidelines
    • Buttin, B. M., Powell, M. A., Mutch, D. G., Babb, S. A., Huettner, P. C., Edmonston, T. B., Herzog, T. J., Rader, J. S., Gibb, R. K., Whelan, A. J., Goodfellow, P. J. 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., Yuen, S. T., Kong, C. K., Chan, Y. W., Chan, A. S. Y., Ng, W. F., Tsui, W. Y., Lo, M. W. S., Tam, W. Y., Li, V. S. W., Leung, S. Y. Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. Nature Genet. 38: 1178-1183, 2006.
    • Frebourg, T., Kassel, J., Lam, K. T., Gryka, M. A., Barbier, N., Andersen, T. I., Borresen, A.-L., Friend, S. H. 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:

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