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Hereditary cancers

Screening for risks of the following cancers: breast, ovarian, prostate, pancreatic, stomach, colorectal and skin.

This study interprets your genes to determine the risk you have to suffer from different types of cancer of hereditary character. It provides you with key information so that you can take preventive and/or follow-up measures to reduce your risk of developing the disease or detect it early.

1/6

One in six deaths worldwide

is due to cancer, according to 2017 data.⁽¹⁾

90%

Early detection of breast cancer

ensures 90% survival.⁽²⁾

5-10%

It is estimated that between 5-10% of cancer cases have a hereditary component,

reaching 20% in certain types of cancer.⁽³⁾

25%

About 25% of hereditary breast and ovarian cancer cases

are due to mutations in the BRCA1 and BRCA2 genes.⁽⁴⁾

_{(1) Source: ourworldindata}
_{(2) Source: Asociación española contra el cáncer.}
_{(3) Source: SEOM (Sociedad Española de Oncología Médica).}
_{(4) Source: Nielsen FC et al. Nature Reviews. 2016;16:599-612}

Hereditary cancers

Study the following hereditary cancer syndromes:

Lynch Syndrome
Gorlin Syndrome
Birt-Hogg-Dube Syndrome
Hereditary breast and ovarian cancer syndrome
Cowden Syndrome
Li-Fraumeni syndrome
Nijmegen Syndrome
Peutz-Jeghers syndrome
Pancreatic cancer/melanoma syndrome
Juvenile Polyposis Syndrome
Hereditary Prostate Cancer
Hereditary diffuse gastric cancer
Gliome
Melanome
Type 1 Neurofibromathose
Familial adenomatous polyposis
Polyposis associated with MUTYH
Associated adenomatous polyposis POLD1 and POLE
Hereditary mixed polyposis syndrome
BAP1-associated tumor predisposition syndrome

Identifies variants in 40 genes related to cancer and hereditary cancer syndromes.
A genetic counsellor approved by medmesafe will accompany you before and after the analysis by video consultation.

Download results report

8 weeks

Spain

Saliva

Whole Exome Secuencing

Counting from the reception of the sample in the laboratory.

Only available in Spain at the moment

Collection of saliva.

Whole exome sequencing (WES) with illumina platform (HiSeq X10, NovaSeq 6000).
Average coverage 110x sequencing >97% at ≥20x.
Compliant with the Laboratory Developed Test (LDT) regulations and performed in a CLIA-certified laboratory (CLIA#22D2089381)
CAP Accreditation (College of American Pathologists).
All the reports are reviewed by an expert medical team with more than 10 years of experience in Whole Genome and Exome sequencing, including members of the Personal Genome Project of Harvard Medical School.
Possible outcomes:
- Pathogenic variants, probably pathogenic variants and variants of uncertain significance (VOUS) are reported.
Technical limitations:
- Inversions and complex structural rearrangements such as translocations are not detected.
- For regions of high homology, del/dup analysis is not performed.
- Copy number variants in APC, ATM, CHEK2, GREM1, MSH6, PALB2, PMS2, PTEN, STK11, and TP53 are detected at multi-exon resolution (2 or more exons).
- EPCAM variant detection is limited to del/dup analysis of the 3’ end of the gene.
The genes included are associated with several cancer types, however there may be other genes associated with hereditary cancer that are not covered by this panel.
No secondary findings are reported outside the established panel.

The analysis detects 40 genes related to different types of cancer".

Multi-gene analysis is more effective than single gene/type cancer testing, as it detects a greater number of people at risk".

Source: https://www.ncbi.nlm.nih.gov/pubmed/29153097

The report of the test results will help the doctor decide the best course of action for each case".

How does it work?

Select desired analysis and a specialist, then you have a video-consultation.
Receive a sample collector kit at home that will be picked up by a courier.
One of our partner labs makes the analysis.
Your healthcare professional presents your results via videoconference.

Go further

To find out if your genes determine that you are at risk for these cancers.
If you have one, it is recommended to know if it will be transmitted to your descendants and to personalize the treatments.

If you have a family history of cancer diagnosed before age 50.
If there are diagnoses of cancer in different family members and in different generations.
If you have several types of tumors.
If you have cancer, in order to know its possible hereditary character.
If a pattern of cancer typical of certain hereditary predispositions is present in your family (ex: colorectal and endometrial cancer in the Lynch Syndrome).

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