Maxwell Lab

Publications

Publications

Li Fraumeni Syndrome

Rates of Intervention and Cancer Detection on Initial versus Subsequent Whole-body MRI Screening in Li-Fraumeni Syndrome
https://doi.org/10.1158/1940-6207.CAPR-23-0011

Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set
https://jamanetwork.com/journals/jamaoncology/fullarticle/2785678

Clinical and Functional Significance of TP53 Exon 4-Intron 4 Splice Junction Variants.
https://mcr.aacrjournals.org/content/early/2021/10/21/1541-7786.MCR-21-0583.long

A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers.
https://cancerres.aacrjournals.org/content/80/17/3732.long

Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome
https://journals.lww.com/ajg/Fulltext/2020/12000/Upper_Gastrointestinal_Cancer_Risk_and.29.aspx

XAF1 as a modifier of p53 function and cancer susceptibility.
https://www.science.org/doi/10.1126/sciadv.aba3231?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed

Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome.
https://link.springer.com/article/10.1007%2Fs10549-020-05612-7

Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome.
https://sciencedirect.com/science/article/pii/S0016508518350285?via%3Dihub

The differential diagnosis of a TP53 genetic testing result.
https://www.nature.com/articles/gim2017250

Prostate Cancer Genetics

Inherited TP53 Variants and Risk of Prostate Cancer
https://www.sciencedirect.com/science/article/pii/S0302283821021394

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer
https://www.sciencedirect.com/science/article/pii/S0302283821020595

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
https://academic.oup.com/jnci/advance-article/doi/10.1093/jnci/djab147/6329642

Clinical Cancer Genetics and Informatics

Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers
https://ascopubs.org/doi/abs/10.1200/PO.23.00036

On-Site Nurse-Led Cancer Genetics Program Increases Cancer Genetic Testing Completion in Black Veterans
https://ascopubs.org/doi/pdf/10.1200/OP.22.00738?role=tab

Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood
https://doi.org/10.1111/cge.14231

Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank
https://doi.org/10.1016/j.gim.2021.10.015

A Natural Language Processing-Assisted Extraction System for Gleason Scores: Development and Usability Study.
https://cancer.jmir.org/2021/3/e27970/authors

EUS-based Pancreatic Cancer Surveillance in BRCA1/BRCA2/PALB2/ATM Carriers Without a Family History of Pancreatic Cancer.
https://cancerpreventionresearch.aacrjournals.org/content/early/2021/09/03/1940-6207.CAPR-21-0161.long

Identification and Confirmation of Potentially Actionable Germline Mutations in Tumor-Only Genomic Sequencing.
https://ascopubs.org/doi/10.1200/PO.19.00076

Research participants' experiences with return of genetic research results and preferences for web-based alternatives.
https://onlinelibrary.wiley.com/doi/10.1002/mgg3.898

Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer
https://ascopubs.org/doi/10.1200/PO.17.00250

Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing.
https://www.nature.com/articles/gim201519

Electronic Health Record Phenotypes for Precision Medicine: Perspectives and Caveats From Treatment of Breast Cancer at a Single Institution
https://ascpt.onlinelibrary.wiley.com/doi/10.1111/cts.12514

Breast Cancer Genetics

Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers
https://ascopubs.org/doi/10.1200/PO.19.00301

The relationship between circulating lipids and breast cancer risk: A Mendelian randomization study
https://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1003302

Genomic landscape of metastatic breast cancer identifies preferentially dysregulated pathways and targets
https://www.jci.org/articles/view/129941

Positron Emission Tomography Imaging of Poly-(Adenosine Diphosphate-Ribose) Polymerase 1 Expression in Breast Cancer: A Nonrandomized Clinical Trial
https://jamanetwork.com/journals/jamaoncology/fullarticle/2764537

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
https://www.nature.com/articles/s41698-020-0109-y

Genomic Signatures Predict the Immunogenicity of BRCA-Deficient Breast Cancer
https://clincancerres.aacrjournals.org/content/25/14/4363.long

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers
https://www.nature.com/articles/s41467-017-00388-9

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk
https://www.nature.com/articles/s41523-017-0024-8

Comparative clinical utility of tumor genomic testing and cell-free DNA in metastatic breast cancer
https://link.springer.com/article/10.1007%2Fs10549-017-4257-x

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer
https://cancerdiscovery.aacrjournals.org/content/6/11/1267.long

Population Frequency of Germline BRCA1/2 Mutations
https://ascopubs.org/doi/pdf/10.1200/JCO.2016.67.0554

Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations
https://www.oncotarget.com/article/9373/text/

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
https://www.sciencedirect.com/science/article/pii/S0002929716300349?via%3Dihub

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer
https://www.nature.com/articles/gim2014176

Common breast cancer risk variants in the post-COGS era: a comprehensive review
https://breast-cancer-research.biomedcentral.com/articles/10.1186/bcr3591

Cancer treatment according to BRCA1 and BRCA2 mutations
https://www.nature.com/articles/nrclinonc.2012.123

Other cool stuff we do

The distinct impacts of race and genetic ancestry on health
https://www.nature.com/articles/s41591-022-01796-1

Transcriptional profiling of single tumour cells from pleural effusions reveals heterogeneity of epithelial to mesenchymal transition and extra-cellular matrix marker expression
https://onlinelibrary.wiley.com/doi/epdf/10.1002/ctm2.888

Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.
https://www.nature.com/articles/s41375-021-01335-w

SARS-CoV-2 Seropositivity and Seroconversion in Patients Undergoing Active Cancer-Directed Therapy
https://ascopubs.org/doi/pdf/10.1200/OP.21.00113

CD8⁺ T cells contribute to survival in patients with COVID-19 and hematologic cancer
https://www.nature.com/articles/s41591-021-01386-7

Rates of COVID-19-Related Outcomes in Cancer Compared With Noncancer Patients
https://academic.oup.com/jncics/article/5/1/pkaa120/6104876

Allele-specific copy number estimation by whole exome sequencing
https://projecteuclid.org/journals/annals-of-applied-statistics/volume-11/issue-2/Allele-specific-copy-number-estimation-by-whole-exome-sequencing/10.1214/17-AOAS1043.full

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
https://academic.oup.com/bib/article/17/4/672/2240552

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