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Breast cancer

ESR1 · rs140068132

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−17, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 1,497 Latino cases, 3,213 Latino controls; replicated in 1,643 Latino cases, 4,971 Latino controls.

The effect Each copy of the A allele carried 1.67 times the odds of Breast cancer (95% confidence interval 1.49-1.89); p = 9 × 10−18.

How common The A allele had a frequency of about 93% in the people studied.

Where it sits Chromosome 6, band 6q25.1 — between genes, 1.3 kb from LOC124901435.

How common each version is

AG
Korean KRGDB
A 99.5% · G 0.5%
Korean Korea4K
A 99.6% · G 0.4%
Korean Korea1K
A 99.8% · G 0.2%
Japanese ToMMo
A 99.8% · G 0.2%
World gnomAD
A 98.9% · G 1.1%
World 1000 Genomes
A 98.2% · G 1.8%
World TOPMed
A 98.0% · G 1.9%

By ancestry gnomAD

East Asian
A 99.5%
European (non-Finnish)
A 100.0%
African / African American
A 99.9%
South Asian
A 99.9%
Admixed American (Latino)
A 89.4% · G 10.6%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A Two copies of the version the research linked to Breast cancer. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Breast cancer. That is a smaller link than two copies.
G/G No copy of the version the research linked to Breast cancer. This is the starting point the study compared everyone against.
Source
Genome-wide association study of breast cancer in Latinas identifies novel protective variants on 6q25
Fejerman L, Ahmadiyeh N, Hu D, Huntsman S, Beckman KB, Caswell JL, Tsung K, John EM, Torres-Mejia G, Carvajal-Carmona L, Echeverry MM, Tuazon AM
and 14 more — show all
Ramirez C, Gignoux CR, Eng C, Gonzalez-Burchard E, Henderson B, Le Marchand L, Kooperberg C, Hou L, Agalliu I, Kraft P, Lindström S, Perez-Stable EJ, Haiman CA, Ziv E
COLUMBUS Consortium
Nature communications · 2014 · PMID 25327703 · open access

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Breast cancer (rs140068132). MyGeneLog™. https://www.mygenelog.com/variants/rs140068132

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