Germline Pathogenic Variants | List of Frontiers open access articles

Brief Research Report

Published on 10 May 2023

Diagnostic rate of germline pathogenic variants in pancreatic ductal adenocarcinoma patients using whole genome sequencing

in Cancer Genetics and Oncogenomics

An-Ko Chung
Ro-Ting Lin
Chun-Chieh Yeh
Chi-Ying Yang
Chang-Jiun Wu
Pei-Lung Chen
Jaw-Town Lin

Frontiers in Genetics

doi 10.3389/fgene.2023.1172365

3,746 views
2 citations

Original Research

Published on 17 Dec 2024

A portrait of germline pathogenic variants in high and moderate penetrance breast cancer genes in Brazil

in Cancer Genetics

Leandro Jonata de Carvalho Oliveira
Amanda Muniz Rodrigues
Carolina de Bustamante Fernandes
Fernanda Orpinelli Ramos do Rego
Fernanda Christtanini Koyama
Andreza Karine de Barros Almeida Souto
Thaiana Aragão Santana
João Paulo Gonzaga de Faria
Marcela Lima Bulcão
Ivana Lucia de Oliveira Nascimento

Frontiers in Oncology

doi 10.3389/fonc.2024.1495605

2,984 views
1 citation

Review

Published on 23 Jun 2025

Part II: consensus statements and expert recommendations for BRCA-associated breast cancer in the Asia-Pacific region: clinical management

in Breast Cancer

Yeon Hee Park
Soo Chin Lee
Christian F. Singer
Judith Balmaña
Rebecca Alexandra Dent
Veronique Kiak-Mien Tan
Nadia Ayu Mulansari
Mastura Md. Yusof
Frances Victoria F. Que
Yen-Shen Lu

Frontiers in Oncology

doi 10.3389/fonc.2025.1507840

4,571 views

Original Research

Published on 28 Jan 2022

Novel Insights From the Germline Landscape of Breast Cancer in Brazil

in Cancer Genetics

Daniel Barbalho
Renata Sandoval
Erika Santos
Janina Pisani
Carla Quirino
Bernardo Garicochea
Benedito Rossi
Maria Isabel Achatz

Frontiers in Oncology

doi 10.3389/fonc.2021.743231

5,722 views
3 citations

Case Report

Published on 21 Aug 2020

A Novel Phenotype of Germline Pathogenic Variants in MAX: Concurrence of Pheochromocytoma and Ganglioneuroma in a Chinese Family and Literature Review

in Cancer Endocrinology

Xiaoyan Chang
Zelin Li
Xiaosen Ma
Yunying Cui
Shuchun Chen
Anli Tong

Frontiers in Endocrinology

doi 10.3389/fendo.2020.00558

4,855 views
13 citations

Original Research

Published on 08 Aug 2022

Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer

in Cancer Genetics

Thais Baccili Cury Megid
Mateus C. Barros-Filho
Janina Pontes Pisani
Maria Isabel Achatz

Frontiers in Oncology

doi 10.3389/fonc.2022.873395

5,669 views
19 citations

Case Report

Published on 01 Sep 2021

Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome

in Genetics of Common and Rare Diseases

Francesco Paduano
Fernanda Fabiani
Emma Colao
Francesco Trapasso
Nicola Perrotti
Vito Barbieri
Francesco Baudi
Rodolfo Iuliano

Frontiers in Genetics

doi 10.3389/fgene.2021.734809

4,411 views
5 citations

Mini Review

Published on 13 Dec 2023

Genetic contribution of breast cancer genes in women of black African origin

in Human and Medical Genomics

Rokhaya Ndiaye
Jean Pascal Demba Diop
Ahmadou Dem
Alioune Dieye

Frontiers in Genetics

doi 10.3389/fgene.2023.1302645

5,305 views
2 citations

Original Research

Published on 08 Nov 2022

The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016–2021

in Genetics of Common and Rare Diseases

Laura Roht
Mikk Tooming
Kadri Rekker
Hanno Roomere
Kadri Toome
Ülle Murumets
Ustina Šamarina
Katrin Õunap
Tiina Kahre

Frontiers in Genetics

doi 10.3389/fgene.2022.1020543

3,892 views
3 citations

Original Research

Published on 15 Oct 2025

The use of whole genome sequencing to study young patients with 100+ adenomas of the colon

in Cancer Genetics

Aleksey S. Tsukanov
Sergey I. Achkasov
Anna N. Loginova
Vitaly P. Shubin
Dmitry Y. Pikunov
Nikolay N. Chekanov
Anastasiya S. Salomatina
Konstantin V. Severinov

Frontiers in Oncology

doi 10.3389/fonc.2025.1616441

1,665 views
1 citation

Mini Review

Published on 24 Aug 2023

SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome

in Brain Disease Mechanisms

Anna Maria Caroleo
Silvia Rotulo
Emanuele Agolini
Marina Macchiaiolo
Luigi Boccuto
Manila Antonelli
Giovanna Stefania Colafati
Antonella Cacchione
Giacomina Megaro
Andrea Carai

Frontiers in Molecular Neuroscience

doi 10.3389/fnmol.2023.1228389

4,043 views
2 citations

Case Report

Published on 28 Nov 2022

Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report

in Breast Cancer

Dongmei Chen
Chenyang Zhang
Mengqi Yuan
Ying Zhang
Qing Liu
Donggui Wan

Frontiers in Oncology

doi 10.3389/fonc.2022.970641

2,814 views
2 citations

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

443 views

Case Report

Published on 28 Apr 2020

Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1

in Genetics of Common and Rare Diseases

Cleandra Gregório
Clévia Rosset
Laura da Silva Alves
Cristina Brinkmann Oliveira Netto
Simone Marcia dos Santos Machado
Vivian Pierri Bersch
Alessandro Bersch Osvaldt
Patricia Ashton-Prolla

Frontiers in Genetics

doi 10.3389/fgene.2020.00395

4,469 views
4 citations

Review

Published on 12 Mar 2021

Molecular Genetic and Genomic Alterations in Cushing’s Syndrome and Primary Aldosteronism

in Cancer Endocrinology

Crystal D. C. Kamilaris
Constantine A. Stratakis
Fady Hannah-Shmouni

Frontiers in Endocrinology

doi 10.3389/fendo.2021.632543

11,698 views
32 citations

Case Report

Published on 19 Dec 2025

Case Report: Expansion of the POLD1-related polymerase proofreading-associated polyposis spectrum: first report of duodenal adenocarcinomas and characterization of two likely pathogenic variants

in Cancer Genetics

Anais Folletet
Morgane Helyon
Maud Privat
Nancy Uhrhammer
Mathilde Gay-Bellile
Mathias Cavaille
Flora Ponelle-Chachuat
Yannick Bidet
Mathis Lepage

Frontiers in Oncology

doi 10.3389/fonc.2025.1727289

1,005 views

Articles

Diagnostic rate of germline pathogenic variants in pancreatic ductal adenocarcinoma patients using whole genome sequencing

A portrait of germline pathogenic variants in high and moderate penetrance breast cancer genes in Brazil

Part II: consensus statements and expert recommendations for BRCA-associated breast cancer in the Asia-Pacific region: clinical management

Novel Insights From the Germline Landscape of Breast Cancer in Brazil

A Novel Phenotype of Germline Pathogenic Variants in MAX: Concurrence of Pheochromocytoma and Ganglioneuroma in a Chinese Family and Literature Review

Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer

Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome

Genetic contribution of breast cancer genes in women of black African origin

The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016–2021

The use of whole genome sequencing to study young patients with 100+ adenomas of the colon

SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome

Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report

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

Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1

Molecular Genetic and Genomic Alterations in Cushing’s Syndrome and Primary Aldosteronism

Case Report: Expansion of the POLD1-related polymerase proofreading-associated polyposis spectrum: first report of duodenal adenocarcinomas and characterization of two likely pathogenic variants