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Home Breast cancer
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Breast cancer

What do we offer?

  • icono de laboratorioDetection of genes involved in predisposition to cancer: Breast and Other related cancers: Uterus - Prostate - Pancreatic - Stomach - Colorectal - Small intestine - Kidney
  • 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
    630 (Save 30%)
    **
  • * 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 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 in good health, but you have a family history:

  • 1 case of cancer in the family

    • Breast cancer and ovarian cancer in the same person.

    • Breast cancer diagnosed before the age of 40.

    2 cases of cancer in the family

    • Bilateral breast cancer + breast cancer diagnosed before age 50.

    • Bilateral breast cancer or breast cancer diagnosed before age 50 + ovarian cancer in a first or second degree relative.

    • 1 breast cancer developed by a male relative and 1 case in a first or second degree relative with breast or ovarian cancer.

    • 2 cases of ovarian cancer in the first and/or second-degree family.

    More than 3 cases of cancer in the family

    • 3 cases of breast cancer and/or ovarian cancer (at least 1 case of ovary) in first and/or second-degree relatives.

  • You don't have any antecedent:

    About half of people with mutations in the BRCA1 or BRCA2 genes have no family history of breast or ovarian cancer, so it is important to get tested.
  • You suffer from breast and/or ovarian cancer:

    To determine the possible hereditary character and receive a more suitable treatment.

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 OMIM or référence RELATED DISEASE SYNDROME RISK*
      ATM 607585
      114480
      Breast cancer or other Risk of cancer associated with the ATM gene 52%
      BRCA1 113705
      604370
      Breast cancer, Ovary cancer, Others Hereditary breast and ovarian cancer syndrome 81%
      BRCA2 600185
      612555
      Breast cancer, Ovary cancer, Others Hereditary breast and ovarian cancer syndrome 84%
      CDH1 192090
      114480
      Breast cancer or other Hereditary breast and ovarian cancer syndrome 52%
      CHEK2 604373
      114480
      Breast cancer or other Hereditary breast and ovarian cancer syndrome 48%
      PALB2 610355
      114480
      Breast cancer or other Risk of cancer associated with PALB2 gene 58%
      PTEN 601728 Breast cancer or other Cowden syndrome 85%
      STK11 602216 Breast cancer or other Peutz-Jeghers syndrome 50%
      TP53 191170
      114480
      Breast cancer or other Li-Fraumeni syndrome >10%
  • 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%.

  • Guidelines>
    • Asociación Española Contra el Cáncer. https://www.aecc.es/es/todo-sobre-cancer/tipos-cancer/cancer-mama
    • Castera L, et al. Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur J Hum Genet. 2014. 22(11):1305-13.

    • Walsh T, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A. 2010. 107(28):12629-33.
    • Van der Groep PE, et al. Pathology of hereditary breast cancer. Cell Oncol (Dordr). 2011. 34(2):71-88.
5. Riesgo máximo acumulado de desarrollar un tumor a lo largo de la vida de los portadores de mutaciones patogénicas.
    • Levy-Lahad E, Friedman E. Cancer risks among BRCA1 and BRCA2 mutation carriers. British Journal of Cancer 2007; 96(1):11–15
    • National Cancer Institute website. BRCA and BRCA2: Cancer Risk and Genetic Testing. www.cancer.gov/cancertopics/factsheet/Risk/BRCA. Accessed March 7, 2018.
    • 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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