PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
11 05 2023
11 05 2023
Historique:
received:
10
10
2022
accepted:
05
05
2023
medline:
15
5
2023
pubmed:
12
5
2023
entrez:
11
5
2023
Statut:
epublish
Résumé
The PALB2 gene is a breast cancer (BC) and ovarian cancer (OC) predisposition gene involved in the homologous recombination repair pathway. However, the prevalence and clinicopathological association of PALB2 pathogenic/likely pathogenic (PV/LPV) variants in Middle East is still not fully explored. Total 918 BC/OC patients from Saudi Arabia were selected for PALB2 mutations screening using capture sequencing technology. Five heterozygous PVs or LPVs were identified in six cases, accounting for 0.65% (6/918) of entire cohort. Two cases (33.3%) harbored PVs and four cases (66.7%) carried LPVs. Four PVs/LPVs (80%) were frameshift along with one novel splicing LPV (c.2835-2_2835-1delinsTT). One recurrent LPV (c.3425delT: p.L1142fs) was identified in two cases. All six affected carriers have breast cancer diagnosis with median age of 39.5 years (range 34-49 years). Only two cases (33%) have documented family history of cancer. Breast cancer phenotype was invasive ductal unilateral cancer in all cases with 66.7% of hormone receptor positive and 16% of triple negative tumors. Germline PVs/LPVs in the PALB2 gene were observed in low frequency of 0.65% in Saudi BC and/or OC. Our study confirms one recurrent LPV and one novel LPV in Saudi breast cancer patients.
Identifiants
pubmed: 37169825
doi: 10.1038/s41598-023-34693-9
pii: 10.1038/s41598-023-34693-9
pmc: PMC10175539
doi:
Substances chimiques
Fanconi Anemia Complementation Group N Protein
0
PALB2 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
7666Informations de copyright
© 2023. The Author(s).
Références
Cancer Med. 2018 Apr;7(4):1349-1358
pubmed: 29522266
Am J Hum Genet. 2005 Mar;76(3):449-62
pubmed: 15700229
Mol Cell. 2006 Jun 23;22(6):719-729
pubmed: 16793542
Cancer. 2017 May 15;123(10):1721-1730
pubmed: 28085182
BMC Cancer. 2020 Aug 10;20(1):747
pubmed: 32778078
J Biol Chem. 2009 Jul 3;284(27):18302-10
pubmed: 19423707
N Engl J Med. 2014 Aug 7;371(6):497-506
pubmed: 25099575
Genet Med. 2010 May;12(5):245-59
pubmed: 20216074
Front Oncol. 2021 Nov 25;11:769280
pubmed: 34900718
Breast Cancer Res Treat. 2015 Dec;154(3):463-71
pubmed: 26564480
Breast Cancer. 2021 Nov;28(6):1167-1180
pubmed: 32862296
J Clin Endocrinol Metab. 2008 Feb;93(2):611-8
pubmed: 18000091
Oncogene. 2014 Oct 2;33(40):4803-12
pubmed: 24141787
N Engl J Med. 2021 Feb 4;384(5):428-439
pubmed: 33471991
Am J Hum Genet. 2001 Apr;68(4):978-89
pubmed: 11254454
Front Oncol. 2020 Sep 29;10:531790
pubmed: 33117676
BMC Med Genet. 2010 Feb 02;11:20
pubmed: 20122277
Proc Natl Acad Sci U S A. 2009 Apr 28;106(17):7155-60
pubmed: 19369211
BMC Med Genet. 2013 Jan 09;14:5
pubmed: 23302520
BMC Med Genomics. 2017 Mar 9;10(1):14
pubmed: 28279176
Int J Clin Oncol. 2018 Feb;23(1):45-51
pubmed: 29185095
N Engl J Med. 2021 Feb 4;384(5):440-451
pubmed: 33471974
Nat Genet. 2007 Feb;39(2):162-4
pubmed: 17200671
Oncogene. 2017 Jul 20;36(29):4161-4170
pubmed: 28319063
Hum Genet. 2017 Nov;136(11-12):1431-1444
pubmed: 28975465
Nucleic Acids Res. 2012 Nov 1;40(20):10312-23
pubmed: 22941656
Cancers (Basel). 2022 Jan 25;14(3):
pubmed: 35158866
Breast Cancer Res Treat. 2011 Apr;126(3):825-8
pubmed: 21184274
Science. 1994 Oct 7;266(5182):66-71
pubmed: 7545954
JAMA Oncol. 2017 Sep 01;3(9):1190-1196
pubmed: 28418444
Breast Cancer Res Treat. 2015 Jan;149(2):547-54
pubmed: 25575445
J Clin Oncol. 2020 Mar 1;38(7):674-685
pubmed: 31841383
Cancer Genet. 2016 Apr;209(4):171-6
pubmed: 26968956
Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067
pubmed: 29165669