YAP1 R331W is an allele predisposed for lung adenocarcinoma with high familial penetrance, a new study published online ahead of print in the Journal of Clinical Oncology has shown.

For the study, researchers performed whole-genome sequencing for a family with an atypically high density of lung adenocarcinoma.

They identified candidate risk alleles and conducted validation in an external cohort of 1,312 patients with lung adenocarcinoma and 1,135 participants without cancer.

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Results showed that YAP1 R331W missense mutation was identified in the original family and validated in the external cohort.

Researchers found that the YAP1 mutant-allele carrier frequency was 1.1% in patients with lung adenocarcinoma versus 0.18% in controls (OR = 5.9; P=0.0095).

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The study demonstrated that among relatives, YAP1-mutant carriers have a significantly higher frequency of developing lung adenocarcinoma or ground-glass opacity lung lesions compared with those who do not carry the mutation (P<0.001).

Adenocarcinoma is the most common type of lung cancer in patients who have never smoked.


  1. Chen H-Y, Yu S-L, Ho B-C, et al. R331W missense mutation of oncogene YAP1 is a germline risk allele for lung adenocarcinoma with medical actionability. J Clin Oncol. 2015. [Epub ahead of print]. doi: 10.1200/JCO.2014.59.3590.