Evidence map›Paper›PMID 42177185›Full record

ArticleNPJ genomic medicine2026

Germline variants in cancer susceptibility genes among patients with mucosal melanoma.

Afsaneh Amouzegar, Xiaogang Wu, James P Long, Gabriela W Chen, Justin W Wong, Sabitha Prabhakaran, Latasha Little, Curtis Gumbs, Neus Bota, Jared Malke and 22 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

32 authors.

Afsaneh AmouzegarDepartment of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Xiaogang WuDepartment of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
James P LongDepartment of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Gabriela W ChenThe Clinical Cancer Genetics Program, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Justin W WongDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Sabitha PrabhakaranDepartment of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Latasha LittleDepartment of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Curtis GumbsDepartment of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Neus BotaDepartment of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Jared MalkeDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Julie SimonDepartment of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Jianhua ZhangDepartment of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Priyadharsini NagarajanDepartment of Anatomical Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Michael A DaviesDepartment of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Hussein TawbiDepartment of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Rodabe N AmariaDepartment of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Isabella C Glitza OlivaDepartment of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Alexandra P IkeguchiDepartment of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Shirley SuDepartment of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Ehab Y HannaDepartment of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Roi WeiserDepartment of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Brian BednarskiDepartment of Colon & Rectal Surgery, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Travis T SimsDepartment of Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Devarati MitraDepartment of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Jennifer WargoDepartment of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Jeffrey E GershenwaldDepartment of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Paul ScheetDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Yao YuDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Chad HuffDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Kelly C NelsonDepartment of Dermatology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Jennifer L McQuadeDepartment of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. Dr.JMcQuade@gmail.com.
P Andrew FutrealDepartment of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. afutreal@mdanderson.org.

Funding

Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI DIANE BODURKA · 1985 to 2026
$290.8M
Center for Clinical and Translational SciencesUM1TR004906 · NCATS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI Maria Eulalia Fernandez, LORNA H. MCNEILL · 2024 to 2026
$16.7M
The University of Texas MD Anderson Cancer Center SPORE in MelanomaP50CA221703 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI WARGO, JENNIFER A. · 2019 to 2023
$10.3M
National Center for Advancing Translational Sciences of the NIH CCTS UM1TR004906NCATS NIH HHS UM1 TR004906NCI NIH HHS CCSG P30CA016672-46NCI NIH HHS NIH/NCI P50CA221703, NIH/NCI P30CA016672NCI NIH HHS P30 CA016672NCI NIH HHS P50 CA221703US Department of Defence W81XWH2210975
6 · The paper itself

Abstract

Mucosal melanoma (MM) is a rare and aggressive melanoma subtype with poor outcomes and poorly understood risk factors, including the contribution of germline pathogenic variants (PVs). In this study, 346 MM patients treated at MD Anderson Cancer Center underwent germline sequencing of 322 known cancer susceptibility genes, with PV frequencies compared to population controls (gnomAD and TOPMed) using Fisher's exact test. The cohort had a median age at diagnosis of 64 years and was predominantly female (62%) and White (84.0%). Anatomical subtypes of MM included gastrointestinal (36%), head and neck (33%), and genitourinary (31%). Among patients with somatic testing results (n = 303), KIT mutations (26%) were most common, followed by NRAS (17%), BRAF

Identifiers

PMID42177185
PMCPMC13478063

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