Cancer Genetics


Main researcher:  Clara Ruiz Ponte

1. Hereditary Predisposition Rare Syndrome to Gastrointestinal Cancer: Familial adenomatous polyposis (FAP, AFAP, MAP, PPAP), mixed polyposis syndrome, serrated polyposissydrome, juvenile polyposis syndrome, Lynch syndrome, Lynch-like syndrome, Constitutional Mismatch Repair Deficiency Syndrome (CMMRD), Familial colorectal cancer type X, Cowden syndrome, Peutz-Jeghers syndrome and hereditary diffuse gastric cancer..

  • Genetic and molecular analysis strategies for the identification of causal genetic variants in susceptibility genes:
    -Incorporation and evaluation of new data analysis pipelines NGS
    -Interpretation and classification of genetic variants of uncertain significance
    -Selection of patients with suspected Lynch syndrome: clinical criteria vs molecular studies
    -Involvement of MUTYH in non-polyposis phenotypes
    -Involvement of Fanconi anemia pathway genes in hereditary colorectal cancer
  • Validation of new candidates genes identified by complete sequencing of exomes. Translation to genetic diagnosis
  • Clinical criteria and diagnostic methods in CMMRD families
  • Implementation and evaluation of methods of detection of somatic mutations

2. Genomics of colorectal cancer (CRC) and colonic Polyposis of unknown origin.

  • Complete sequencing of exomes: identification of new genes of susceptibility colonic Polyposis of unknown originand colorectal cancer in young patients
  • GWAS approximations and fine-mapping studies: identification of common variants in CRC


Main researcher:  Ana Vega Gliemmo

1. Breast cancer: identification of low penetrance genes in sporadic and familiar breast cancer
2. Genetic basis of hereditary syndromes with predisposition to breast cancer
3. Classification of UV variants of the BRCA1 and BRCA2 genes.
4. Genetic basis in PHTS.
5. Prostate Cancer


Main researcher: Manuela Gago Domínguez

1. Molecular and Genetic Cancer Epidemiology:

  • Breast Cance
    – BREOGAN, the Galician Mammary Oncology Network, part of the International Consortium of Breast Cancer BCAC
    – OncoArray Network: susceptibility studyof germline genetic variants GWAS.
    – Validation of new candidate genes identified by sequencing.
  • Genomic Studies of other Neoplasms
    – Susceptibility study of germline genetic variants GWAS of colorectal cancer, prostate cancer and urinary tract cancer.

2. Biomarkers of Cancer Susceptibility (Screening and Diagnosis):

  • Biochemical markers of oxidative stress and apoptosis in the development of breast cancer.

3. Gen X Environment Interactions GXA

  • GxA Analysis and breast cancer risk and ER-negative.
  • GxA Analysis and risk of other malignancies such as prostate, colorectal and bladder.

4. Identification of Specific Risk Determinants and Forecast for Tumor Subtypes

  • Breast Cancer: Study of stratification of breast cancer based on tumor profile: Breast Cancer Stratification Tumor Profiling, BCAST.
  • Prostate and Bladder Cancer: Study of stratification of prostate and bladder cancer based in the genetic profile.

5. Research linked to Survival 

  • Study of the effect of germline genetic variants on survival to breast cancer, colorectalcancer, prostate cancer and urinary tract cancer. 

6. Cancer Chemoprophylaxis:

  • Preventionassay of Omega-3 fatty acids in women with high risk ofbreast cancer.
  • Phase II assay, randomized, prospective, placebo-controlled study to evaluate the chemopreventiveeffect of vitamin D in women with high risk of breast cancer.

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