Publications

Breast (Edinburgh, Scotland)

The benefit of adding polygenic risk scores, lifestyle factors, and breast density to family history and genetic status for breast cancer risk and surveillance classification of unaffected women from germline CHEK2 c.1100delC families.

01-02-2024

BMJ (Clinical research ed.)

Invasive breast cancer and breast cancer death after non-screen detected ductal carcinoma in situ.

24-01-2024

BMC medicine

Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status.

09-01-2024

European journal of cancer (Oxford, England : 1990)

External validation and clinical utility assessment of PREDICT breast cancer prognostic model in young, systemic treatment-naïve women with node-negative breast cancer.

01-12-2023

Journal of medical genetics

Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.

27-11-2023

Journal of the National Cancer Institute

Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation.

08-11-2023

Nature genetics

Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.

01-11-2023

BMJ (Clinical research ed.)

Association of DCIS size and margin status with risk of developing breast cancer post-treatment: multinational, pooled cohort study.

30-10-2023

Journal of empirical research on human research ethics : JERHRE

Health Research with Data in a Time of Privacy: Which Information do Patients Want?

01-10-2023

Breast (Edinburgh, Scotland)

Agreement on risk assessment and chemotherapy recommendations among breast cancer specialists: A survey within the MINDACT cohort.

01-10-2023

Cancers

DCIS and LCIS: Are the Risk Factors for Developing In Situ Breast Cancer Different?

02-09-2023

Nature genetics

Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.

01-09-2023

Breast cancer research : BCR

A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry.

09-08-2023

Cancer medicine

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.

01-08-2023

Nature communications

Obesity-associated changes in molecular biology of primary breast cancer.

21-07-2023

Cancers

Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases.

23-06-2023

Breast cancer research : BCR

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium.

20-06-2023

medRxiv : the preprint server for health sciences

Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

20-06-2023

NPJ breast cancer

PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants.

12-05-2023

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

High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of BRCA1/2 Pathogenic Variants: Prevalence and Clinical Factors.

10-05-2023

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

Nature genetics

Genomic analysis defines clonal relationships of ductal carcinoma in situ and recurrent invasive breast cancer.

01-06-2022

Key

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