Germline Variant | List of Frontiers open access articles

Mini Review

Published on 04 Oct 2023

Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience

in Hematologic Malignancies

Hui-Lin Chin
Joyce Ching Mei Lam
Dheepa Christopher
Poon Limei Michelle
Benedict Yan Junrong

Frontiers in Oncology

doi 10.3389/fonc.2023.1182639

3,804 views
4 citations

Case Report

Published on 21 Aug 2020

RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report

in Molecular and Cellular Oncology

Elisa Gelli
Chiara Fallerini
Floriana Valentino
Annarita Giliberti
Francesca Castiglione
Lucrezia Laschi
Maria Palmieri
Alessandra Fabbiani
Rossella Tita
Maria Antonietta Mencarelli

Frontiers in Oncology

doi 10.3389/fonc.2020.01467

5,826 views
2 citations

Original Research

Published on 19 Oct 2021

A Germline Variant at 8q24 Contributes to the Serum p2PSA Level in a Chinese Prostate Biopsy Cohort

in Genitourinary Oncology

Xiaoling Lin
Yishuo Wu
Fang Liu
Rong Na
Da Huang
Danfeng Xu
Jian Gong
Yao Zhu
Bo Dai
Dingwei Ye

Frontiers in Oncology

doi 10.3389/fonc.2021.753920

3,752 views
4 citations

Original Research

Published on 21 Mar 2022

EGFR Q787Q Polymorphism Is a Germline Variant and a Prognostic Factor for Lung Cancer Treated With TKIs

in Thoracic Oncology

Wen-Jui Wu
Sheng-Hsiung Yang
Hsin-Pei Chung
Chia-Te Yen
Yen-Ting Chen
Wei-Chin Chang
Jian Su
Hsuan-Yu Chen

Frontiers in Oncology

doi 10.3389/fonc.2022.816801

3,634 views
3 citations

Case Report

Published on 13 Oct 2023

Lung adenocarcinoma in a patient with Lynch syndrome: a case report and literature review

in Cancer Genetics

Alan Hodges
Kai Sun
Tiffany G. Sheu
Eric H. Bernicker

Frontiers in Oncology

doi 10.3389/fonc.2023.1193503

4,290 views
3 citations

Case Report

Published on 01 Nov 2018

Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion

in Cancer Endocrinology

Noran Alharbi
Sylvia L. Asa
Marta Szybowska
Raymond H. Kim
Shereen Ezzat

Frontiers in Endocrinology

doi 10.3389/fendo.2018.00641

6,288 views
31 citations

Case Report

Published on 30 May 2025

Case Report: Influence of BRCA1 germline mutation on treatment-related morbidity of a non-seminomatous germ cell tumor patient

in Cancer Genetics

Bruno Griesler
Susann Schulze
Thomas Kegel
Christine Dierks
Pablo Villavicencio-Lorini
Markus Eszlinger
Haifa Kathrin Al-Ali
Nadja Jaekel

Frontiers in Oncology

doi 10.3389/fonc.2025.1579574

2,102 views
1 citation

Case Report

Published on 12 Feb 2026

Case Report: An uncommon germline variant of familial GISTs: broadening the landscape of inherited GIST syndromes

in Cancer Genetics

Pallavi Roshini Ganesan
Max Vogel
Daniel Knight
Danielle Rosenzweig
Ross Michels

Frontiers in Oncology

doi 10.3389/fonc.2026.1662921

675 views

Case Report

Published on 12 Aug 2022

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

in Genetics of Common and Rare Diseases

Ibrahim Taha
Selena Foroni
Roberto Valli
Annalisa Frattini
Pamela Roccia
Giovanni Porta
Marco Zecca
Elena Bergami
Marco Cipolli
Francesco Pasquali

Frontiers in Genetics

doi 10.3389/fgene.2022.896749

5,256 views
2 citations

Original Research

Published on 27 Oct 2023

Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer

in Gastrointestinal Cancers: Colorectal Cancer

Safiye Yildiz
Takudzwa N. Musarurwa
Ursula Algar
Ramadhani Chambuso
George Rebello
Paul A. Goldberg
Raj Ramesar

Frontiers in Oncology

doi 10.3389/fonc.2023.1253867

5,653 views
7 citations

Review

Published on 19 Jan 2026

Metastatic extra-axial medulloblastoma involving the trigeminal nerve: a rare prognostic entity with a comprehensive literature review

in Neuro-Oncology and Neurosurgical Oncology

Federica D’Antonio
Andrea Carai
Giada del Baldo
Sabrina Rossi
Giovanna Stefania Colafati
Eleonora Piccirilli
Sabina Barresi
Isabella Giovannoni
Veronica Capelli
Selene Cipri

Frontiers in Oncology

doi 10.3389/fonc.2025.1573781

956 views

Case Report

Accepted on 31 Mar 2026

Case report: Epidermal Growth Factor Receptor (EGFR) germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities

in Neuroradiology

Elise Aimée Ferreira
Machteld M. Oud
Erik-Jan Kamsteeg
Clara D. van Karnebeek
Mirjam Langeveld
Edward Leter
Maartje Vogel
Nicole Wolf
Stefan Roosendaal
Jeroen van Dillen

Frontiers in Radiology

1,904 views

Case Report

Published on 02 Aug 2024

Case report: Germline POT1 mutation in a patient with GIST and lung adenocarcinoma

in Cancer Genetics

Stefania Martino
Simona De Summa
Brunella Pilato
Maria Digennaro
Letizia Laera
Stefania Tommasi
Margherita Patruno

Frontiers in Oncology

doi 10.3389/fonc.2024.1419739

3,608 views
1 citation

Original Research

Published on 23 Jan 2023

Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome

in Molecular Diagnostics and Therapeutics

Laia Bonjoch
Yasmin Soares de Lima
Marcos Díaz-Gay
Isabella Dotti
Jenifer Muñoz
Leticia Moreira
Sabela Carballal
Teresa Ocaña
Miriam Cuatrecasas
Oswaldo Ortiz

Frontiers in Molecular Biosciences

doi 10.3389/fmolb.2023.1119900

6,376 views
2 citations

Case Report

Published on 18 Nov 2021

Case Report: Infantile Urticaria as a Herald of Neonatal Onset Multisystem Inflammatory Disease With a Novel Mutation in NLRP3

in Autoimmune and Autoinflammatory Disorders

Anna E. Patrick
Eden M. Lyons
Lisa Ishii
Alan S. Boyd
Joseph M. Choi
Anna K. Dewan
Janet G. Markle

Frontiers in Immunology

doi 10.3389/fimmu.2021.775140

5,174 views
3 citations

Case Report

Published on 20 May 2022

Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene

in Genetics of Common and Rare Diseases

Feier Zeng
Huan Liu
Xuyang Xia
Yang Shu
Wei Cheng
Heng Xu
Geng Yin
Qibing Xie

Frontiers in Genetics

doi 10.3389/fgene.2022.814786

5,424 views
3 citations

Articles

Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience

RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report

A Germline Variant at 8q24 Contributes to the Serum p2PSA Level in a Chinese Prostate Biopsy Cohort

EGFR Q787Q Polymorphism Is a Germline Variant and a Prognostic Factor for Lung Cancer Treated With TKIs

Lung adenocarcinoma in a patient with Lynch syndrome: a case report and literature review

Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion

Case Report: Influence of BRCA1 germline mutation on treatment-related morbidity of a non-seminomatous germ cell tumor patient

Case Report: An uncommon germline variant of familial GISTs: broadening the landscape of inherited GIST syndromes

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer

Metastatic extra-axial medulloblastoma involving the trigeminal nerve: a rare prognostic entity with a comprehensive literature review

Case report: Epidermal Growth Factor Receptor (EGFR) germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities

Case report: Germline POT1 mutation in a patient with GIST and lung adenocarcinoma

Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome

Case Report: Infantile Urticaria as a Herald of Neonatal Onset Multisystem Inflammatory Disease With a Novel Mutation in NLRP3

Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene