rs80357906

badMag 9.5

This is a stop gained variant in the BRCA1 gene.

Key Literature Trait Associations

Breast Cancer Risk

This BRCA1 pathogenic variant (5382insC) introduces a premature stop codon, disrupting DNA double-strand break repair. Female carriers have 60-80% lifetime breast cancer risk and 40-60% ovarian cancer risk.

Antoniou A et al. “Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.” American Journal of Human Genetics 72(5):1117-1130 (2003)

Allele T

OR 11.00

p 1.0e-200

Large GWAS

Antoniou AC et al. “Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies.” Journal of Medical Genetics (2005)

Allele T

OR —

p —

Candidate gene study

multi-ancestry

Plakhins G et al. “Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia.” Bmc Medical Genetics (2011)

Allele T

OR 2.98

p 1.0e-3

N 3,341

Preliminary work

Latvian (Eastern European)

Bodunova NA et al. “Comprehensive Screening for Early Cancer Detection in Individuals With Genetic Predisposition.” Jco Precision Oncology (2025)

Allele T

OR —

p —

N 816

Preliminary work

Russian

Jahangiri S et al. “Strong association of single nucleotide polymorphisms in BRCA1, ATM, and CHEK2 with breast cancer susceptibility in a sub-population of Iranian women.” Breast Cancer Research and Treatment (2025)

Allele T

OR 6.33

p 1.0e-4

N 689

Preliminary work

Iranian (Kurdish)

Ovarian cancer

Carriers of the BRCA1 c.5266dupC (rs80357906) frameshift mutation face substantially elevated ovarian cancer risk, consistent with genome-wide estimates for BRCA1 pathogenic variants of approximately 39–46% lifetime risk by age 80. A GWAS in 11,705 BRCA1 mutation carriers identified novel ovarian cancer risk modifier loci and quantified lifetime ovarian cancer risk ranging from under 28% for low-risk carriers to over 63% for high-risk carriers. Latvian genotype-phenotype data indicate that 5382insC specifically drives proportionally more breast than ovarian cancers relative to other regional BRCA1 founder alleles, though absolute ovarian cancer penetrance remains clinically significant.

Couch FJ et al. “Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.” Plos Genetics 9(3):e1003212 (2013)

Allele C

OR —

p —

N 14,351

Preliminary work

multi-ancestry

Plakhins G et al. “Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia.” Bmc Medical Genetics (2011)

Allele C

OR 2.98

p 1.0e-3

N 3,341

Preliminary work

Latvian (Eastern European)

Allele C

OR —

p —

Candidate gene study

multi-ancestry

Gene information from NCBI Gene. Variant classifications from ClinVar.

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