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We assessed accuracy of self-reported lifetime mammography history by BRCA1/2 mutation carriers with and without breast cancer.
Overall, 40% of 134 TERT mutation carriers with a mean age of 51 carry a diagnosis of pulmonary fibrosis.
However, as we expanded the kindreds, we discovered many other TERT mutation carriers with a similar phenotype.
Most of the TERT mutation carriers with pulmonary fibrosis, blood dyscrasias or liver cirrhosis were 40 years of age or older.
On average, the mean life expectancy of TERT mutation carriers with pulmonary fibrosis was 3 years from the time of diagnosis (Figure 4B).
Direct genomic DNA sequencing for the proband's TERT mutation in the expanded families identified 134 heterozygous TERT mutation carriers with a mean age of 51 years.
Here we show that 40% of TERT mutation carriers with a mean age of 51 years have self-reported pulmonary fibrosis, which is usually but not always clinically consistent with IPF.
Over ninety-five percent of TERT mutation carriers with pulmonary fibrosis report an exposure to smoking and/or a fibrogenic environmental or occupational agent that may have contributed to the development of their interstitial lung disease.
We compared BRCA mutation carriers with and without breast cancer.
Nine mutation carriers with the H1H2 genotype and six mutation carriers with the H2H2 genotype have died.
To date, clinical symptoms and signs of MSTD have been observed in 16 mutation carriers with the H1H2 genotype and in seven mutation carriers with the H2H2 genotype.
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