Perelman School of Medicine at the University of Pennsylvania

Maxwell Lab


Li Fraumeni Syndrome

Rates of Intervention and Cancer Detection on Initial versus Subsequent Whole-body MRI Screening in Li-Fraumeni Syndrome

Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set

Clinical and Functional Significance of TP53 Exon 4-Intron 4 Splice Junction Variants.

A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers.

Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome

XAF1 as a modifier of p53 function and cancer susceptibility.

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.

Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome.

Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome.

The differential diagnosis of a TP53 genetic testing result.

Prostate Cancer Genetics

Inherited TP53 Variants and Risk of Prostate Cancer

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.

Clinical Cancer Genetics and Informatics

Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers  

On-Site Nurse-Led Cancer Genetics Program Increases Cancer Genetic Testing Completion in Black Veterans

Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood

Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank

A Natural Language Processing-Assisted Extraction System for Gleason Scores: Development and Usability Study.

EUS-based Pancreatic Cancer Surveillance in BRCA1/BRCA2/PALB2/ATM Carriers Without a Family History of Pancreatic Cancer.

Identification and Confirmation of Potentially Actionable Germline Mutations in Tumor-Only Genomic Sequencing.

Research participants' experiences with return of genetic research results and preferences for web-based alternatives.

Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer

Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing.

Electronic Health Record Phenotypes for Precision Medicine: Perspectives and Caveats From Treatment of Breast Cancer at a Single Institution


Breast Cancer Genetics

Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers

The relationship between circulating lipids and breast cancer risk: A Mendelian randomization study

Genomic landscape of metastatic breast cancer identifies preferentially dysregulated pathways and targets

Positron Emission Tomography Imaging of Poly-(Adenosine Diphosphate-Ribose) Polymerase 1 Expression in Breast Cancer: A Nonrandomized Clinical Trial

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

Genomic Signatures Predict the Immunogenicity of BRCA-Deficient Breast Cancer

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

Comparative clinical utility of tumor genomic testing and cell-free DNA in metastatic breast cancer

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

Population Frequency of Germline BRCA1/2 Mutations

Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer

Common breast cancer risk variants in the post-COGS era: a comprehensive review

Cancer treatment according to BRCA1 and BRCA2 mutations


Other cool stuff we do

The distinct impacts of race and genetic ancestry on health

Transcriptional profiling of single tumour cells from pleural effusions reveals heterogeneity of epithelial to mesenchymal transition and extra-cellular matrix marker expression

Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.

SARS-CoV-2 Seropositivity and Seroconversion in Patients Undergoing Active Cancer-Directed Therapy

CD8+ T cells contribute to survival in patients with COVID-19 and hematologic cancer

Rates of COVID-19-Related Outcomes in Cancer Compared With Noncancer Patients

Allele-specific copy number estimation by whole exome sequencing

Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes