BBGLab

Sex and smoking bias in the selection of somatic mutations in human bladder

Martina Gasull — Fri, 10 Oct 2025 10:09:50 +0000

Our latest study about somatic mutations in the human bladder is now published in Nature. Using ultradeep DNA duplex sequencing we can measure the clonal landscape of normal human bladder in an informative and scalable manner. In a cohort of 45 donors, we find that bladder cancer risk factors, such as sex and smoking, shape the clonal landscape of the normal bladder tissue in specific ways that could help explain the differences in risk between males and females and in smokers.

Link to the paper

Link to Bluesky thread

Link to IRB Barcelona news

3D-clustering algorithm for cancer driver gene detection

Martina Gasull — Mon, 25 Aug 2025 14:14:24 +0000

A new computational method developed in our lab, Oncodrive3D, has been published in Nucleic Acids Research.
The article, titled “Oncodrive3D: fast and accurate detection of structural clusters of somatic mutations under positive selection,” presents a new 3D-clustering algorithm for cancer driver gene detection. This method analyzes patterns of somatic mutations in cancer to identify protein regions that show a higher-than-expected frequency of mutations.
Oncodrive3D outperforms existing 3D-clustering methods and complements other driver detection approaches.

Link to the paper

Link to LinkedIn Post

Five latent factors underlie response to immunotherapy

Martina Gasull — Tue, 01 Oct 2024 12:37:22 +0000

A study by our group that identified five key factors that are significantly associated with the response of cancer patients to immunotherapy was published in Nature Genetics.

We used an unbiased approach to analyse thousands of molecular and clinical features and identified five independent factors that influence response to immunotherapy and patient survival. These findings provide a framework to interpret biomarkers of response to CPIs and suggest a future pathway to improve personalised cancer medicine.

Link to the paper

Link to Tweetorial

Link to IRB Barcelona News

Intogen release 2024

Martina Gasull — Mon, 23 Sep 2024 12:18:08 +0000

We are very happy to announce that a dual new release of intOGen and boostDM is out.

We collected data from 33,218 tumors, resulting in 633 driver genes. We trained new boostDM models for 736 gene-tumor type combinations, comprising 115 genes across 89 tumor types.

The new intOGen updates are

Updated Hartwig Medical Foundation data
The use of MANE transcripts, used in clinical practice
Updated key third-party dependencies.

The new boostDM updates include:

Model implementation changes
Improved integration with intOGen
Updated data dependencies
Bug fixes

We want to thank the many contributions to intOGen from those who generate and share data, those who develop databases and methods and make them available, and of course patients who shared their sample and data for research.

More information at intOGen Release Notes and boostDM Release Notes.

New machine learning models to identify driver mutations for clonal hematopoiesis

Martina Gasull — Wed, 18 Sep 2024 15:35:44 +0000

Our latest work to identify mutations that drive clonal hematopoiesis (CH) has been published in the journal Cancer Discovery.

We developed machine learning models to identify the mutations responsible for CH, an age-related blood condition that increases the risk of developing serious conditions such as blood cancers and cardiovascular diseases. Our work demonstrates the potential of data-driven approaches to support the identification of CH cases in the clinic.

Link to the paper

Link to Tweetorial

Link to IRB News

Our work on the origin of some pediatric cancers published in Cancer Discovery

Martina Gasull — Wed, 20 Mar 2024 16:08:41 +0000

We studied the cases of four children who have experienced two cancers during childhood to address the origin of second pediatric cancers. As a tool, the research uses the footprint of the initial treatment to identify when the second tumor occurred. This study also shows that healthy tissues accumulated mutations due to chemotherapy treatment, with unknown long-term effects.

The work, in collaboration with a team from Sant Joan de Déu Hospital IRSJD, has been published in the Journal Cancer Discovery.

Link to the paper

Link to Monica’s X thread

Link to IRB Barcelona News

Barcelona Biomed Conference on CANCER PROMOTION

Martina Gasull — Fri, 02 Feb 2024 09:43:28 +0000

CANCER PROMOTION: understanding cancer promotion to inform prevention

Link to the video

Nuria Lopez-Bigas, jointly with Allan Balmain (UCSF) and Paul Brennan (IARC) is organizing the next Barcelona Biomed Conference that will be held on June 3-5 of 2024 in Barcelona. This is a good opportunity to bring together an impressive and outstanding group of scientists to share and discuss their knowledge and projects in relation to Cancer Promotion.

The conference aims at boost the knowledge to understanding cancer promotion at the level of non-mutagenic factors. While it is clear that mutations in DNA, either spontaneous or environmentally induced, are essential for cancer development, recent advances have highlighted the importance of non-mutagenic factors as rate-limiting determinants of cancer risk in human populations and in mouse cancer models.

Topics
• Epidemiology, risk factors and cancer prevention
• Molecular mechanisms of cancer promotion
• Clonal expansions in normal tissues
• Modeling cancer promotion and prevention in organoids and model systems

Information and registration: Link

Interview en “El País”

mariona — Thu, 18 Jan 2024 10:24:49 +0000

Interview en “El País”

Nuria Lopez-Bigas, Mutations in healthy tissues

Entrevista en “El País”

mariona — Wed, 17 Jan 2024 10:34:36 +0000

Entrevista en “El País”

Nuria lopez-Bigas, Mutaciones en tejidos sanos

Entrevista SEBBM

mariona — Tue, 16 Jan 2024 15:15:52 +0000

Entrevista SEBBM

Nuria Lopez-Bigas, Mujeres en ciencia