PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo-Reference-Cited by-同舟云学术

PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

Published:2014-09 Issue:9 Volume:16 Page:688-694
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Catucci Irene,Peterlongo Paolo,Ciceri Sara,Colombo Mara,Pasquini Graziella,Barile Monica,Bonanni Bernardo,Verderio Paolo,Pizzamiglio Sara,Foglia Claudia,Falanga Anna,Marchetti Marina,Galastri Laura,Bianchi Tiziana,Corna Chiara,Ravagnani Fernando,Bernard Loris,Fortuzzi Stefano,Sardella Domenico,Scuvera Giulietta,Peissel Bernard,Manoukian Siranoush,Tondini Carlo,Radice Paolo

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201413.pdf

Reference36 articles.

Cited by 25 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration;Eye;2024-08-02

2. Germline mutations in the PALB2 and CHEK2 genes and hereditary cancer;Ural Medical Journal;2023-06-30

3. Modulation of DNA Methylation/Demethylation Reactions Induced by Nutraceuticals and Pollutants of Exposome Can Promote a C > T Mutation in the Breast Cancer Predisposing Gene PALB2;Epigenomes;2022-09-30

4. Splicing predictions, minigene analyses, and ACMG ‐ AMP clinical classification of 42 germline PALB2 splice‐site variants;The Journal of Pathology;2021-12-28

5. Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy;Cancers;2021-01-30