Sensitive

Breast cancer

ECHDC1 · rs2180341

Where this position leads

What the study found

Who was studied 249 Ashkenazi Jewish non-BRCA1/2 carriers cases, 299 Ashkenazi Jewish non-BRCA1/2 carriers controls; replicated in 1,193 Ashkenazi Jewish non-BRCA1/2 carriers cases, 1,166 Ashkenazi Jewish non-BRCA1/2 carriers controls.

The effect Each copy of the G allele carried 1.41 times the odds of Breast cancer (95% confidence interval 1.25-1.59); p = 3 × 10⁻⁸.

How common The G allele had a frequency of about 21% in the people studied.

Where it sits Chromosome 6, band 6q22.33 — in an intron of RNF146.

What each result means

A/A No copy of the version the research linked to Breast cancer. This is the starting point the study compared everyone against.

A/G One copy of the version the research linked to Breast cancer. That is a smaller link than two copies.

G/G 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.

Source

Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33

Gold B, Kirchhoff T, Stefanov S, Lautenberger J, Viale A, Garber J, Friedman E, Narod S, Olshen AB, Gregersen P, Kosarin K, Olsh A

and 8 more — show all

Bergeron J, Ellis NA, Klein RJ, Clark AG, Norton L, Dean M, Boyd J, Offit K

Proceedings of the National Academy of Sciences of the United States of America · 2008 · PMID 18326623

What people read about alongside this

Alcohol and the flush1 Menopause1

Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.

Questions about rs2180341

What is rs2180341?

rs2180341 is a single position in the genome, in or near the ECHDC1 gene. Published research associates it with breast cancer. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2180341 linked to?

On MyGeneLog this position is linked to Breast Cancer. The research behind each link, and its sources, are set out on that condition page.

What do people read about alongside rs2180341?

Subjects that appear in the title or abstract of the same papers as this rsID include alcohol and the flush (1 papers), menopause (1 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.

Does having rs2180341 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs2180341 come from?

GWAS Catalog, Proc Natl Acad Sci U S A 2008, PMID:18326623. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Breast cancer (rs2180341). MyGeneLog™. https://www.mygenelog.com/variants/rs2180341

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