PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk-Reference-Cited by-同舟云学术

PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk

Published:2019-05-14 Issue:8 Volume:64 Page:767-773
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Vagena Andromachi^ORCID,Papamentzelopoulou Myrto,Kalfakakou Despoina^ORCID,Kollia Panagoula,Papadimitriou Christos,Psyrri Amanda,Apostolou Paraskevi^ORCID,Fountzilas George,Konstantopoulou Irene^ORCID,Yannoukakos Drakoulis,Fostira Florentia^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0612-6.pdf

Reference37 articles.

1. Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet. 2007;39:162–4.

2. Buisson R, Masson JY. PALB2 self-interaction controls homologous recombination. Nucleic Acids Res. 2012;40:10312–23.

3. Fernandes PH, Saam J, Peterson J, Hughes E, Kaldate R, Cummings S, et al. Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer. Cancer. 2014;120:963–7.

4. Tischkowitz M, Xia B, Sabbaghian N, Reis-Filho JS, Hamel N, Li G, et al. Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci USA. 2007;104:6788–93.

5. Tischkowitz M, Xia B. PALB2/FANCN: recombining cancer and Fanconi anemia. Cancer Res. 2010;70:7353–9.

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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. EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer;Cancer Treatment and Research Communications;2022

5. Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer;Genetics in Medicine;2021-10