Kara N Maxwell
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Explore the profile of Kara N Maxwell including associated specialties, affiliations and a list of published articles.
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103
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2265
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Recent Articles
1.
Achatz M, Villani A, Bertuch A, Bougeard G, Chang V, Doria A, et al.
Clin Cancer Res
. 2025 Mar;
PMID: 40072304
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition condition characterized by a high lifetime risk for a wide spectrum of malignancies associated with germline pathogenic/likely pathogenic (P/LP) variants in...
2.
Fernandes C, Du Y, Naumer A, Kagami L, Le A, Good M, et al.
Pancreas
. 2025 Feb;
PMID: 40009039
Objectives: Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome that may confer increased pancreatic cancer (PC) risk. This study assesses PC risk and the rate of pancreatic imaging abnormalities in...
3.
Dornisch A, Xu G, Karunamuni R, Brunette C, Danowski M, Teerlink C, et al.
medRxiv
. 2025 Feb;
PMID: 39974097
To address the concern that polygenic hazard scores for prostate cancer (PCa) might not distinguish between indolent and aggressive disease, we performed analyses using a 601-variant polygenic score (PHS601). We...
4.
Corbett R, Kaufman R, McQuaid S, Vaksman Z, Phul S, Brown M, et al.
medRxiv
. 2025 Feb;
PMID: 39974082
The contribution of rare pathogenic/likely pathogenic (P/LP) germline variants to pediatric central nervous system (CNS) tumor development remains understudied. Here, we characterized the prevalence and clinical significance of germline P/LP...
5.
Demarest K, Anantharajah A, Maxwell K, Rohanizadegan M, Bradbury A, Nathanson K, et al.
JAMA Netw Open
. 2025 Feb;
8(2):e2460312.
PMID: 39964682
Importance: Metaplastic breast cancer (MpBC) is a rare, heterogeneous disease often associated with inferior outcomes. A growing body of literature describes the clinical and molecular features of MpBC, yet limited...
6.
Perrino M, Jongmans M, Tomlinson G, Greer M, Scollon S, Mitchell S, et al.
Clin Cancer Res
. 2025 Feb;
PMID: 39937237
Schwannomatoses (SWN) are distinct cancer predisposition syndromes caused by germline pathogenic variants in the genes NF2, SMARCB1, or LZTR1. There is significant clinical overlap between these syndromes with the hallmark...
7.
Cappadocia J, Aiello L, Kelley M, Katona B, Maxwell K
Genet Med Open
. 2024 Dec;
2:101858.
PMID: 39669620
This study investigates the frequency of a clinically reported variant in , NM_000535.7:c.2523G>A p.(W841∗), from next-generation sequencing studies in 2 racially diverse cohorts. We identified clinical reports of the c.2523G>A...
8.
Clinicopathologic Features of Breast Tumors in Germline TP53 Variant-Associated Li-Fraumeni Syndrome
Narasimhamurthy M, Le A, Boruah N, Moses R, Kelly G, Bleiweiss I, et al.
Am J Surg Pathol
. 2024 Dec;
49(3):195-205.
PMID: 39629784
We present one of the largest cohorts of TP53 -pathogenic germline variants (PGVs) associated with patients with Li-Fraumeni syndrome (n = 82) with breast tumors (19 to 76 y; median...
9.
Powers J, Wachtel H, Trujillo E, Desai H, Hausler R, Conway L, et al.
Genet Med
. 2024 Nov;
27(1):101246.
PMID: 39570271
Purpose: Pathogenic germline variants (PGVs) in a subset of cancer predisposition genes (CPGs) are associated with adult-onset autosomal dominant (AD) cancer susceptibility and life-limiting autosomal recessive (AR) disease. Counseling in...
10.
Schultz K, MacFarland S, Perrino M, Mitchell S, Kamihara J, Nelson A, et al.
Clin Cancer Res
. 2024 Nov;
31(2):234-244.
PMID: 39540884
Phosphate and tensin homolog hamartoma tumor syndrome, DICER1-related tumor predisposition, and tuberous sclerosis complex are rare conditions, which each increases risk for distinct spectra of benign and malignant neoplasms throughout...