這種罕見基因會顯著增加從未吸煙者罹患肺癌的風險（2/2）

Recently The New York Times reported the following:

This Rare Gene Drastically Raises Lung Cancer Risk in People Who Never Smoked (2/2)

The gene is found predominantly in Southern Appalachia and may be one of the most powerful cancer-risk mutations ever found.

The NYT - By Gina Kolata (Gina Kolata reports on diseases and treatments, how treatments are discovered and tested, and how they affect people.)

Sept. 17, 2026

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Those data allowed the investigators to trace the origin of the mutation to the settler or settlers from the British Isles, to determine the cancer risk the mutation conferred and to discover that the gene was associated only with lung cancer.

They also found that about one in 15,000 people in the United States had the gene, but one in 2,000 in Southern Appalachia had it.

For those who have the gene, it can confer a grim legacy.

Caroline Blanchard, a 35-year-old nurse practitioner from New Orleans, said her story began about 15 years ago, when her very healthy aunt, who had never smoked, got lung cancer and died within a year, at age 45. “We didn’t question it,” Ms. Blanchard said. “Her doctors said it was just sort of random.”

Then, four years ago, her grandmother got lung cancer, at age 80. Her doctors, at MD Anderson Cancer Center, suggested genetic testing. Ms. Blanchard’s grandmother had the EGFR T790M mutation.

After learning that, Ms. Blanchard’s “very healthy” mother decided to get a lung scan. It revealed nodules in both lungs: She also had the mutation.

Next it was her turn, Ms. Blanchard said. She found out she had the mutation and nodules in both lungs.

“I’m so glad my grandmother lived to be 80,” she said. If she had died in her 70s, Ms. Blanchard added, no one would have thought to test for that cancer gene.

Dr. Jänne, a senior author of the report, said lung cancer could be found early with CT scans, but guidelines reserved them for smokers and former smokers over 50. The new findings raise important questions: Should doctors screen people with the mutation earlier? Or at least more often?

He would also like to understand why the mutation affects only lung cells.

“There’s a lot to learn here,” Dr. Jänne said.

All in all, “it’s a very cool story,” said Dr. Stephen Chanock, director of the Division of Cancer Epidemiology and Genetics at the National Cancer Institute, who wrote a perspective accompanying the article.

“We always thought this gene was causing cancer,” he noted. But, he added, only now it is clear how powerful it is.

Translation

這種罕見基因會顯著增加從未吸煙者罹患肺癌的風險（2/2）

該基因主要存在於美國Appalachia南部地區，可能是迄今為止發現的最強致癌基因突變之一

（繼續）

這些數據使研究人員能夠追溯該突變的起源，找到來自不列顛群島的定居者，確定該突變帶來的癌症風險，並發現該基因只與肺癌有關。

他們也發現，美國約有1/15,000的人帶有該基因，而南部阿巴拉契亞地區的比例為1/2,000。

對於帶有該基因的人來說，這可能會留下可怕的遺傳。

來自新奧爾良的35歲執業護理師Caroline Blanchard說，她的故事始於大約15年前。當時，她身體非常健康的姑姑，從未吸煙，卻患上了肺癌，並在一年內去世，年僅45歲。 Caroline Blanchard女士說: “我們當時並沒有質疑” ， “她的醫生說這只是個偶然事件。”

四年前，她的祖母也罹患了肺癌，當時她80歲。 MD安德森癌症中心的醫生建議她進行基因檢測。發現Blanchard女士的祖母有EGFR T790M基因突變。

得知這一消息後，Blanchard女士的「非常健康」母親決定去做肺部掃描。結果顯示，她的雙肺都有結節：她也有同樣的基因突變。

Blanchard女士說，接下來輪到她自己了。她發現自己也帶有同樣的突變，雙肺都有結節。

她說:「我非常慶幸我的祖母活到了80歲」。Blanchard女士補充說，如果她70多歲就去世了，恐怕沒人會想到要檢測這種癌症基因。

報告的資深作者之一Jänne博士表示，肺癌可以透過CT掃描早期發現，但目前的指南只針對50歲以上的吸煙者和戒煙者。新的發現引發了一些重要問題：醫生是否應該更早篩檢帶有這種突變基因的人？或至少更頻繁地做篩檢？

他也想了解為什麼這種突變只會影響肺細胞。

Jänne 博士說: 「這裡有很多東西要學習」。

為這篇文章撰寫了一篇觀點評論的美國國家癌症研究所 癌症流行病學和遺傳學部門主任Stephen Chanock博士說道，總而言之「這是一個非常精彩的故事」。

他指出:「我們一直認為這種基因會導致癌症」。但他補充說，直到現在，我們才清楚地認識到它的威力有多大。

              So, of a new report shows that a lung cancer gene, known as EGFR T790M is often found in residents of the United States and mostly in Southern Appalachia, especially Tennessee and Alabama. This lung cancer gene makes lung cancer 62 times as likely in those who have never smoked and 10 times as likely in smokers. The new findings raise the questions: Should doctors screen people with the mutation earlier? Or at least more often? Apparently, we now know more about lung cancer.