Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.

doi:10.1038/s41598-021-94316-z

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Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.

Scientific reports - 19 Jul 2021

Helgadottir Hafdis T, Thutkawkorapin Jessada, Lagerstedt-Robinson Kristina, Lindblom Annika

Abstract excerpt

Identifying genetic cancer risk factors will lead to improved genetic counseling, cancer prevention and cancer care. Analyzing families with a strong history of breast cancer (BC) has been a successful method to identify genes that contribute to the disease. This has led to discoveries of high-risk genes like the BRCA-genes. Nevertheless, many BC incidences are of unknown causes. In this study, exome sequencing...

Topics

Adult
Breast Neoplasms
Codon, Nonsense
DNA Helicases
DNA Mutational Analysis
Family
Female
Gain of Function Mutation
Genes, Neoplasm
Genetic Predisposition to Disease
Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Middle Aged

Pedigree

Risk Factors

Sweden

Exome Sequencing

Source

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Identifiers

PMID: 34282249
DOI: 10.1038/s41598-021-94316-z
PMCID: PMC8289997

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