Study of Cancer Genetics to Help with Targeted Treatment

Scientists have studied the full genetic¹ information of more than 18,000 cancer samples. They found new information about the patterns of mutations, or changes, that could help doctors provide better treatment.

Their study, which appeared recently in the publication Science, is not the first to do such a complete genetic study of cancer samples. But no one has ever used such a large sample size.

Serena Nik-Zainal of the University of Cambridge was part of the team that did the research. She said this was "the largest cohort in the world. It is extraordinary."

Over 12,000 samples in the study came from patients recruited by Britain's National Health Service. They were part of a project to study whole genomes from people with common cancers and rare diseases. The rest of the data came from existing cancer data sets.

Researchers were able to study such a large number because of the same improvements in technology that recently permitted scientists to complete the map of the entire human genome.

Andrew Futreal, a genomic expert at MD Anderson Cancer Center in Houston, was not involved in the study. He said the study gives scientists some knowledge of the destructive forces that cause cancer.

Cancer is a disease of the genome or full set of instructions for running cells. It happens when changes in a person's DNA³ cause cells to grow and divide uncontrollably. DNA is a substance that carries the genetic information in the cells of living things, like a human. In 2020, there were about 19 million new cancer cases worldwide.

For the study, researchers looked at 19 different kinds of cancer in the human body. It identified 58 new "mutational⁴ signatures," or pieces of evidence leading to the causes of cancer. Nik-Zainal said researchers also confirmed 51 of more than 70 previously⁵ reported mutation² patterns. Some arise because of problems within a person's cells; others are caused by ultraviolet radiation, tobacco smoke, or chemicals.

Knowing more of them "helps us to understand each person's cancer more precisely," which can help guide treatment, Nik-Zainal said.

Genetic sequencing, the process used to study the makeup⁶ of a cell, is already being included in cancer care. It is part of the growing move toward personalized medicine, or care based on a patient's genes⁷ and specific disease. Now doctors will have much more information to draw from when they look at individual cancers.

To help doctors use this information, researchers developed a computer program that will let them find common mutation patterns and seek out rare ones. Nik-Zainal said doctors could suggest a treatment based on a special pattern.

Futreal said the data can also show doctors what tends to happen over time when a patient develops a cancer with a certain mutation pattern. This will help doctors give earlier treatment and hopefully stop the developing disease.

Words in This Story

sample – n. a group of people or things that are taken from a larger group and studied, tested, or questioned to get information

pattern – n. the regular and repeated way in which something happens

mutation – n. a change in hereditary⁸ material

cohort – n. a group of individuals having something (usually a statistical⁹ factor) in common in a study

genome – n. the complete set of genes in a cell or organism

DNA – n. a substance that carries genetic information in the cells of plants and animals

1 genetic   

adj.遗传的，遗传学的

参考例句：

• It's very difficult to treat genetic diseases.遗传性疾病治疗起来很困难。
• Each daughter cell can receive a full complement of the genetic information.每个子细胞可以收到遗传信息的一个完全补偿物。

2 mutation   

n.变化，变异，转变

参考例句：

• People who have this mutation need less sleep than others.有这种突变的人需要的睡眠比其他人少。
• So far the discussion has centered entirely around mutation in the strict sense.到目前为止，严格来讲，讨论完全集中于围绕突变问题上。

3 DNA   

(缩)deoxyribonucleic acid 脱氧核糖核酸

参考例句：

• DNA is stored in the nucleus of a cell.脱氧核糖核酸储存于细胞的细胞核里。
• Gene mutations are alterations in the DNA code.基因突变是指DNA密码的改变。

4 mutational   

[医] 突变的

参考例句：

• These large populations facilitate the detection of rare mutational or recombinational events. 这样的大群体有利于检出稀有的突变或重组子。
• All sorts of mutational damage to animals' DNA would have occurred. 动物的脱氧核糖核酸可能遭到了各种各样的突变破坏。

5 previously   

adv.以前，先前（地）

参考例句：

• The bicycle tyre blew out at a previously damaged point.自行车胎在以前损坏过的地方又爆开了。
• Let me digress for a moment and explain what had happened previously.让我岔开一会儿，解释原先发生了什么。

6 makeup   

n.组织；性格；化装品

参考例句：

• Those who failed the exam take a makeup exam.这次考试不及格的人必须参加补考。
• Do you think her beauty could makeup for her stupidity?你认为她的美丽能弥补她的愚蠢吗？

7 genes   

n.基因( gene的名词复数 )

参考例句：

• You have good genes from your parents, so you should live a long time. 你从父母那儿获得优良的基因，所以能够活得很长。 来自《简明英汉词典》
• Differences will help to reveal the functions of the genes. 它们间的差异将会帮助我们揭开基因多种功能。 来自英汉非文学 - 生命科学 - 生物技术的世纪

8 hereditary   

adj.遗传的，遗传性的，可继承的，世袭的

参考例句：

• The Queen of England is a hereditary ruler.英国女王是世袭的统治者。
• In men,hair loss is hereditary.男性脱发属于遗传。

9 statistical   

adj.统计的，统计学的

参考例句：

• He showed the price fluctuations in a statistical table.他用统计表显示价格的波动。
• They're making detailed statistical analysis.他们正在做具体的统计分析。