Progress in the field of genetics has enabled us to study hundreds of genes that, in some cases, have been linked to the onset of diseases such as cancer; for some of these genes, the causal relationship has been clearly established. In other cases, however, the link is uncertain. This is one of the main problems that familial cancer genetics specialists face, and one of the principal reasons why they are meeting in Madrid this week at one of the most significant scientific conferences in the field.
Over the years, clinical experts have studied a few genes linked to hereditary carcinomas. However, since the introduction of new sequencing techniques, the number of genetic variants associated with some types of familial cancer has multiplied. Consequently, the experts are experiencing an adjustment period.
“The degree of complexity is such that these meetings enable us to catch up on the latest developments and share experiences and knowledge with leading international experts," says Mercedes Robledo, head of the Hereditary Endocrine Cancer Group at the CNIO and member of the conference’s Scientific Committee.
This transition and the search for the best way to approach it will be one of the key aspects of the Familial Cancer Conference that will be held on 19 and 20 May in Madrid. The meeting, organised by the Spanish National Cancer Research Centre (CNIO), the European School of Oncology (ESO) and the journal Nature Reviews Clinical Oncology, will bring together a large number of notable figures in the familial cancer field, such as Hans Vasen or Peter Devilee, both from the University of Leiden (Holland).
From classic genes, such as BRCA1 and BRCA2, to Multiple Endocrine Neoplasia Type 1 DICER1 syndrome, the speakers will deal with various familial cancer types, which account for 5 % to 10 % of all carcinomas. Many of them are considered rare diseases due to the relatively low number of cases.
"IF YOU HAD WARNED ME, I WOULDN’T HAVE WANTED TO KNOW"
One of the main conference highlights will take place during the Friday afternoon session; initially intended as a round table in which Peter Devilee and Ignacio Blanco, from the University Hospital Germans Trias i Pujol in Barcelona, and William Foulkes, McGill University (Canada), were going to discuss next-generation sequencing. However, given the number of clinical cases received, the speakers decided to introduce a slight change to the programme.
"We have received all sorts of very interesting cases", said Blanco. These are complex cases that some of the attendees have encountered regarding "problems generated due to the incorporation of the latest sequencing techniques". The results that these tools are offering pose clinical and moral dilemmas for the experts.
This information "has implications for the patient, for the family, and an impact on the future of all of them", explains the Spanish expert. Now, in addition, the results may reveal issues that patients were not expecting, such as discovering a predisposition to colon cancer when the visit was related to hereditary breast cancer.
"One of the phrases we hear often is: "if you had warned me, I wouldn’t have wanted to know”, says Blanco. The Friday session will serve among other purposes to improve the way clinicians deal with these situations. The meeting in general is "a meeting point for updating knowledge regarding familial cancer with the most relevant data and leading speakers".
Javier Benítez, Director of the Human Cancer Genetics Programme at the CNIO, and Mercedes Robledo will formally open the event. The congress will take place on 19 - 20 May at the Ateneo in Madrid.