By focusing on familial cancers, researchers respond to the needs of professionals who work with cancer patients by implementing a process of selection, evaluation and genetic advisories involving the patients and their families (Family Cancer Clinical Group, Hereditary Endocrine Cancer Group) Their mandate calls for close coordination with other hospital services including Medical Oncology, Endocrinology, Genetics, Gastroenterology, Surgical Procedure, Gynecology and others that contribute to our understanding of familial and hereditary cancer. At the same time, they coordinate with universities, patients’ associations and society at large in identifying the molecular composition and characteristics of family cancers.
Researchers at the Human Cancer Genetic Program the Genetics and Cytogenetics Program have identified over 30 genes that appear to be involved in determining a patient’s susceptibility to cancer.
List of genes with associated disorders currently under study in the cnio human cancer genetics program and their current response times
Genes and related disorders, response times
- MNEN 1 (Multiple Endocrine Neoplasia, Type 1) 60 days
- RET (Multiple Endocrine Neoplasia, Type 2 & CMTF) 30 days
- VHL (Von Hippel-Lindau disease) 30 days
- AIP (Hereditary Pituitary Tumor) 30 days
- HRPT2 (Parathyroid Cancer) 60 days
- SDHA (Familial Pheochromocytoma) 60 days
- SDHD (Familial Pheochromocytoma) 30 days
- SDHB (Familial Pheochromocytoma) 30 days
- SDHC (Familial Pheochromocytoma) 30 days
- SDHAF2 (Familial Paraganglioma) 30 days
- HIF2a (Familial Pheochromocytoma) 30 days
- TMEM127 (Familial Pheochromocytoma) 30 days
- MAX (Familial Pheochromocytoma) 30 days
- MET (Papillary Kidney Cancer) 60 days
- FH (Leiomyomatosis and Familial Kidney Cancer) 30 days
- PRKAR1A (Carney Complex) 60 days
- BRCA1/BRCA2 (Hereditary breast/ovary cancer) 30 days
- APC (Familial Adenomatous Polyposis) 90 days
- MUTYH (MUTYH-associated Adenomatous Polyposis) 90 days
- MLH1/MSH2/MSH6 (Lynch Syndrome) 120 days
- Early Diagnosis Lynch Syndrome (microsatellite instability, BRAF, etc.) 30 days
- CDKN2A (Familial melanoma) 30 days
- PTEN (Cowden, Bannayan-Riley-Ruvalcaba, etc. Syndromes) 60 days
- TP53 (Li-Fraumeni Syndrome) 60 days
- STK11 (Peutz-Jegher Syndrome) 60 days
- HLXB9 (Currarino Syndrome) 60 days
- PATCH (Gorlin Syndrome) 60 days
- CDH1 (Familial Diffuse Gastric Cancer) 60 days
- FLCN (Birt-Hogg-Dubé) Syndrome) 30 days
- SH2D1A (Duncan Disease) 30 days
- Study of a known mutation: 20 days
Indirect studies (haplotypes). Response times to be determined by pathological characteristics
Response times apply to the index case and are approximate. Once the molecular alteration responsible for a familial disease has been identified, response time for subsequent cases where a family member requests confirmation of his or her status (healthy or carrier) will be based on the known mutation.
The above listing enumerates the disorders that are currently the object of CNIO research. The latter is a dynamic process that can broaden its scope if so required. Should the disease of interest not appear in this listing, please contact us directly.
- Specimens to be dispatched from Monday to Friday.
- For research involving RNA, it is essential to take delivery of the sample on the same day it was dispatched.
- For research involving DNA, between 10-15 cc of peripheral blood with EDTA is necessary.
- In all instances, the Center requires a brief summary of the diagnosis or possible diagnosis, the patient’s family tree, and the declaration of informed consent signed by the patient together with the pertinent certificate of authorization issued by the Center.