Genome-wide linkage search for cancer susceptibility loci in a cohort of non BRCA1/2 families in Sri Lanka.
Familial cancer
Genotyping
Hereditary cancers
Linkage analysis
Whole exome sequencing
Journal
BMC research notes
ISSN: 1756-0500
Titre abrégé: BMC Res Notes
Pays: England
ID NLM: 101462768
Informations de publication
Date de publication:
02 Jun 2022
02 Jun 2022
Historique:
received:
23
02
2022
accepted:
18
05
2022
entrez:
2
6
2022
pubmed:
3
6
2022
medline:
7
6
2022
Statut:
epublish
Résumé
Although linkage studies have been utilized for the identification of variants associated with cancer in the world, little is known about their role in non BRCA1/2 individuals in the Sri Lankans. Hence we performed linkage analysis to identify susceptibility loci related to the inherited risk of cancer in a cohort of Sri Lankans affected with hereditary breast cancer. The Illumina global screening array having 654,027 single nucleotide polymorphism markers was performed in four families, in which at least three individuals within third degree relatives were affected by breast cancer. Two-point parametric linkage analysis was conducted assuming disease allele frequency of 1%. Penetrance was set at 90% for carriers with a 10% phenocopy rate. Thirty-one variants exhibited genome-wide suggestive HLODs. The top overall HLOD score was at rs1856277, an intronic variant in MYO16 on chromosome 13. The two most informative families also suggested several candidate linked loci in genes, including ERAP1, RPRM, WWOX, CDH1, EXOC1, HUS1B, STIM1 and TUSC1. This study provides the first step in identifying germline variants that may be involved in risk of cancer in cancer-aggregated non-BRCA1/2 families from the understudied Sri Lankan population. Several candidate linked regions showed suggestive evidence of linkage to cancer risk.
Identifiants
pubmed: 35655316
doi: 10.1186/s13104-022-06081-5
pii: 10.1186/s13104-022-06081-5
pmc: PMC9164366
doi:
Substances chimiques
Cell Cycle Proteins
0
HUS1B protein, human
0
Minor Histocompatibility Antigens
0
TUSC1 protein, human
0
Tumor Suppressor Proteins
0
Aminopeptidases
EC 3.4.11.-
ERAP1 protein, human
EC 3.4.11.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
190Subventions
Organisme : University Grants Commission - Sri Lanka
ID : UGC/VC/DRIC/PG2017 (II)/RUH/02
Informations de copyright
© 2022. The Author(s).
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