Publications

Breast cancer research : BCR

Breast cancer genomes from CHEK2 c.1100delC mutation carriers lack somatic TP53 mutations and display a unique structural variant size distribution profile.

09-05-2023

European journal of human genetics : EJHG

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.

01-05-2023

Journal of clinical oncology : official journal of the American Society of Clinical Oncology

Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival.

01-04-2023

Journal of medical genetics

Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.

01-04-2023

American journal of human genetics

The impact of coding germline variants on contralateral breast cancer risk and survival.

02-03-2023

European journal of cancer (Oxford, England : 1990)

EBCC-13 manifesto: Balancing pros and cons for contralateral prophylactic mastectomy.

01-03-2023

Cancer medicine

Risk of metachronous contralateral breast cancer in patients with primary invasive lobular breast cancer: Results from a nationwide cohort.

01-02-2023

Genome medicine

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.

26-01-2023

Human mutation

A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.

01-01-2023

Cancer

Breast cancer and cardiovascular outcomes after breast cancer in survivors of Hodgkin lymphoma.

15-12-2022

BMC medical research methodology

Methodological guidance for the evaluation and updating of clinical prediction models: a systematic review.

12-12-2022

Journal of the National Cancer Institute

Distinct Reproductive Risk Profiles for Intrinsic-Like Breast Cancer Subtypes: Pooled Analysis of Population-Based Studies.

08-12-2022

Journal of medical genetics

Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence.

01-12-2022

Journal of medical genetics

Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study.

01-12-2022

Annals of oncology : official journal of the European Society for Medical Oncology

Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer.

01-12-2022

Breast cancer research : BCR

Correction: PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.

22-11-2022

Breast cancer research : BCR

PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.

21-10-2022

British journal of sports medicine

Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study.

01-10-2022

European journal of cancer (Oxford, England : 1990)

Incorporating progesterone receptor expression into the PREDICT breast prognostic model.

01-09-2022

Trials

Design of a multinational randomized controlled trial to assess the effects of structured and individualized exercise in patients with metastatic breast cancer on fatigue and quality of life: the EFFECT study.

29-07-2022

Journal of clinical oncology : official journal of the American Society of Clinical Oncology

Prognostic Value of Stromal Tumor-Infiltrating Lymphocytes in Young, Node-Negative, Triple-Negative Breast Cancer Patients Who Did Not Receive (neo)Adjuvant Systemic Therapy.

20-07-2022

Cancers

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

11-07-2022

Cancers

Prediction Models and Decision Aids for Women with Ductal Carcinoma In Situ: A Systematic Literature Review.

02-07-2022

Breast cancer research and treatment

Survival of BRCA1/BRCA2-associated pT1 breast cancer patients, a cohort study.

01-07-2022

Preventive medicine

Towards implementation of comprehensive breast cancer risk prediction tools in health care for personalised prevention.

01-06-2022

Genome medicine

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

18-05-2022

Journal of clinical oncology : official journal of the American Society of Clinical Oncology

Outcome of Patients With an Ultralow-Risk 70-Gene Signature in the MINDACT Trial.

20-04-2022

Annals of oncology : official journal of the European Society for Medical Oncology

Outcome without any adjuvant systemic treatment in stage I ER+/HER2- breast cancer patients included in the MINDACT trial.

01-03-2022

JAMA oncology

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.

01-03-2022

Biopreservation and biobanking

Barriers and Facilitators for Implementing a National Guideline to Foster the Responsible Use of Residual Biospecimens and Data in Health Research.

01-02-2022

Breast (Edinburgh, Scotland)

Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers: A nationwide cohort study.

01-02-2022

Communications biology

Rare germline copy number variants (CNVs) and breast cancer risk.

18-01-2022

International journal of epidemiology

Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries.

06-01-2022

Breast cancer research : BCR

Common variants in breast cancer risk loci predispose to distinct tumor subtypes.

04-01-2022

Genome medicine

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

02-12-2021

Journal of pathology informatics

Browser-based Data Annotation, Active Learning, and Real-Time Distribution of Artificial Intelligence Models: From Tumor Tissue Microarrays to COVID-19 Radiology.

12-11-2021

British journal of cancer

Long-term risk of subsequent ipsilateral lesions after surgery with or without radiotherapy for ductal carcinoma in situ of the breast.

01-11-2021

Scientific reports

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis.

05-10-2021

Breast cancer research and treatment

Improved risk estimation of locoregional recurrence, secondary contralateral tumors and distant metastases in early breast cancer: the INFLUENCE 2.0 model.

01-10-2021

The British journal of radiology

Descriptive analysis of MRI functional changes occurring during reduced dose radiotherapy for myxoid liposarcomas.

01-10-2021

British journal of cancer

Mendelian randomisation study of smoking exposure in relation to breast cancer risk.

01-10-2021

Data in brief

Data describing the poor outcome associated with a breast cancer diagnosis in the post-weaning period.

01-10-2021

NPJ breast cancer

Circadian PERformance in breast cancer: a germline and somatic genetic study of PER3^VNTR polymorphisms and gene co-expression.

10-09-2021

Breast cancer research and treatment

Combining method of detection and 70-gene signature for enhanced prognostication of breast cancer.

01-09-2021

European journal of cancer (Oxford, England : 1990)

Breast cancer diagnosed in the post-weaning period is indicative for a poor outcome.

01-09-2021

Genetics in medicine : official journal of the American College of Medical Genetics

The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.

01-09-2021

Breast cancer research : BCR

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment.

18-08-2021

Nature

Genetic insights into biological mechanisms governing human ovarian ageing.

01-08-2021

Breast cancer research and treatment

Letter to the editor regarding: 'Association between BRCA mutational status and survival in patients with breast cancer: a systematic review and meta-analysis'.

01-08-2021

Journal of the National Cancer Institute

Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers.

01-07-2021