Founder Variants | List of Frontiers open access articles

Original Research

Published on 31 Jul 2020

Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects

in Women's Cancer

Ana Peixoto
Pedro Pinto
Joana Guerra
Manuela Pinheiro
Catarina Santos
Carla Pinto
Rui Santos
Carla Escudeiro
Carla Bartosch
Rita Canário

Frontiers in Oncology

doi 10.3389/fonc.2020.01318

23,151 views
18 citations

Case Report

Published on 14 May 2024

Case report: Unveiling a less severe congenital nephrotic syndrome in a Rapa Nui patient with a NPHS1 Maori founder variant

in Clinical Research in Nephrology

Paola Krall
Angélica Rojo
Anita Plaza
Sofia Canals
María Luisa Ceballos
Francisco Cano
José Luis Guerrero

Frontiers in Nephrology

doi 10.3389/fneph.2024.1379061

2,676 views
1 citation

Original Research

Published on 12 Sep 2022

Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme

in Cancer Genetics and Oncogenomics

Anna Doraczynska-Kowalik
Dagmara Michalowska
Rafal Matkowski
Ewelina Czykalko
Dorota Blomka
Mariola Semeniuk
Mariola Abrahamowska
Gabriela Janus-Szymanska
Paulina Mlynarczykowska
Bartlomiej Szynglarewicz

Frontiers in Genetics

doi 10.3389/fgene.2022.941375

6,664 views
9 citations

Original Research

Published on 08 Feb 2023

A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people

in Nephrology

Pavlina Plevova
Jana Indrakova
Judy Savige
Petra Kuhnova
Petra Tvrda
Dita Cerna
Sarka Hilscherova
Monika Kudrejova
Daniela Polendova
Radka Jaklova

Frontiers in Medicine

doi 10.3389/fmed.2023.1096869

4,570 views
5 citations

Original Research

Published on 10 Feb 2023

Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico

in Cancer Genetics and Oncogenomics

Clara Estela Díaz-Velásquez
Rina Gitler
Adriana Antoniano
Ronny Kershenovich Sefchovich
Aldo Hugo De La Cruz-Montoya
Héctor Martínez-Gregorio
Ernesto Arturo Rojas-Jiménez
Ricardo Cortez Cardoso Penha
Luis Ignacio Terrazas
Talia Wegman-Ostrosky

Frontiers in Genetics

doi 10.3389/fgene.2023.1094260

7,744 views
8 citations

Original Research

Published on 10 Jun 2020

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

in Primary Immunodeficiencies

Svetlana O. Sharapova
Małgorzata Skomska-Pawliszak
Yulia A. Rodina
Beata Wolska-Kuśnierz
Nel Dabrowska-Leonik
Bozena Mikołuć
Olga E. Pashchenko
Srdjan Pasic
Tomáš Freiberger
Tomáš Milota

Frontiers in Immunology

doi 10.3389/fimmu.2020.00900

13,668 views
19 citations

Original Research

Published on 12 Feb 2021

Globally Rare BRCA2 Variants With Founder Haplotypes in the South African Population: Implications for Point-of-Care Testing Based on a Single-Institution BRCA1/2 Next-Generation Sequencing Study

in Cancer Epidemiology and Prevention

Jaco Oosthuizen
Maritha J. Kotze
Nicole Van Der Merwe
Ettienne J. Myburgh
Phillip Bester
Nerina C. van der Merwe

Frontiers in Oncology

doi 10.3389/fonc.2020.619469

6,995 views
17 citations

Articles

Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects

Case report: Unveiling a less severe congenital nephrotic syndrome in a Rapa Nui patient with a NPHS1 Maori founder variant

Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme

A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people

Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

Globally Rare BRCA2 Variants With Founder Haplotypes in the South African Population: Implications for Point-of-Care Testing Based on a Single-Institution BRCA1/2 Next-Generation Sequencing Study