Associated Papers
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C et al.
European Journal of Human Genetics : Ejhg, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M et al.
Blood Cancer Discovery, 2022
Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.
Sun H et al.
Nature Communications, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Kohli M et al.
Ebiomedicine, 2020
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.
Johansson PA et al.
Melanoma Research, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
The prognostic effects of somatic mutations in ER-positive breast cancer.
Griffith OL et al.
Nature Communications, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark.
Soegaard M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008
BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families.
Sinilnikova OM et al.
Familial Cancer, 2006