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EGFR mutation-positive lung adenocarcinoma

BPTF · rs7216064

Where this position leads

Condition: EGFR Mutation-Positive Lung Adenocarcinoma

rs7216064 Condition: EGFR Mutation-Positive Lung Adenocarcinoma EGFR Mutation-Positive Lung Adenoca… Condition rs7216064 rs7216064 BPTF

What the study found

Who was studied 663 Japanese ancestry cases, 4,367 Japanese ancestry controls; replicated in 2,510 Japanese ancestry cases, 10,791 Japanese ancestry controls.

The effect Each copy of the A allele carried 1.27 times the odds of EGFR mutation-positive lung adenocarcinoma (95% confidence interval 1.19-1.35); p = 2 × 10−12.

How common The A allele had a frequency of about 71% in the people studied.

Where it sits Chromosome 17, band 17q24.2 — in an intron of BPTF.

What each result means

A/A Two copies of the version the research linked to EGFR mutation-positive lung adenocarcinoma. 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 EGFR mutation-positive lung adenocarcinoma. That is a smaller link than two copies.
G/G No copy of the version the research linked to EGFR mutation-positive lung adenocarcinoma. This is the starting point the study compared everyone against.
Source
Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma
Shiraishi K, Okada Y, Takahashi A, Kamatani Y, Momozawa Y, Ashikawa K, Kunitoh H, Matsumoto S, Takano A, Shimizu K, Goto A, Tsuta K
and 34 more — show all
Watanabe SI, Ohe Y, Watanabe Y, Goto Y, Nokihara H, Furuta K, Yoshida A, Goto K, Hishida T, Tsuboi M, Tsuchihara K, Miyagi Y, Nakayama H, Yokose T, Tanaka K, Nagashima T, Ohtaki Y, Maeda D, Imai K, Minamiya Y, Sakamoto H, Saito A, Shimada Y, Sunami K, Saito M, Inazawa J, Nakamura Y, Yoshida T, Yokota J, Matsuda F, Matsuo K, Daigo Y, Kubo M, Kohno T
Nature communications · 2016 · PMID 27501781 · open access

Questions about rs7216064

What is rs7216064?

rs7216064 is a single position in the genome, in or near the BPTF gene. Published research associates it with egfr mutation-positive lung adenocarcinoma. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs7216064 linked to?

On MyGeneLog this position is linked to EGFR Mutation-Positive Lung Adenocarcinoma. The research behind each link, and its sources, are set out on that condition page.

Does having rs7216064 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 rs7216064 come from?

GWAS Catalog, Nat Commun 2016, PMID:27501781. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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EGFR mutation-positive lung adenocarcinoma (rs7216064). MyGeneLog™. https://www.mygenelog.com/variants/rs7216064

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