One In Eight Cancer Patients Has Heritable Genetic Mutations

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One In Eight Cancer Patients Has Heritable
Genetic Mutations

As we all know, cancer is caused by genetic mutations. The causes of carcinogenic gene
mutations can be divided into two categories. One is acquired mutations, including aging,
poor lifestyles, environmental factors, etc., and the other is genetic mutations, which are
inherited from certain oncogene mutations, such as BRAC1 and BRAC2 genes mutations
that are prone to breast cancer.

Everyone is at risk of developing cancer throughout his life, but in most cases, cancer
occurs accidentally. However, some people are genetically inclined to develop certain
types of cancer, such as breast cancer or colorectal cancer, etc. This is often because
they have inherited specific cancer risk genes from their parents.

Genetic testing can identify those genetic mutations that can be inherited, which can
help individualize cancer treatment, improve patient survival, prevent cancers in
immediate family members in advance, and promote the development of precision
medicine.

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In October 2020, JAMA Oncology published a research paper titled Comparison of
Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With
Hereditary Cancer Syndrome from Mayo Clinic, which is ranked number one in the
world.

The research team conducted genetic testing on 2984 confirmed cancer patients. The test
results showed that more than one-eighth (397 people, 13.3%) of cancer patients had
heritable genetic mutations related to cancer.

These cancers cover a variety of cancer stages and types, including breast cancer,
colorectal cancer, lung cancer, ovarian cancer, pancreatic cancer, bladder cancer,
prostate cancer, and endometrial cancer.

The researchers were surprised to find that doctors used standard cancer diagnosis
and treatment guidelines to determine which cancer patients should receive
genetic testing, and only 48% of cancer patients with heritable genetic mutations
were found.

In other words, more than half of cancer patients with heritable genetic mutations cannot
be found through standard cancer diagnosis and treatment guidelines. Of the 2984
diagnosed with cancer, 397 were found to have at least one heritable genetic mutation
related to cancer, and the 6 most common types are:

BRCA1 and BRCA2 mutations, a total of 66 people, accounting for 2.2%, cause breast
cancer in women

MUTYH mutation, a total of 50 people, accounting for 1.7%, is related to the risk of
colorectal cancer

CHEK2 mutations, a total of 47 people, accounting for 1.6%, are related to the risk of
breast cancer, ovarian cancer, prostate cancer and other cancers

ATM mutations, a total of 31 people, accounting for 1.0%, are related to breast cancer,
pancreatic cancer and other cancer risks

Mismatch repair gene mutations (including MLH1, MSH6, MSH2, MSH3, PMS2), a total
of 29 people, accounting for 1.0 %, leading to Lynch syndrome, which is related to the risk
of colorectal cancer

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Gene mutations can lead to abnormal gene function and even cell cancerous
transformation. Although many oncogene mutations occur accidentally in a single cell, this
study shows that more than one-eighth of cancer patients with oncogene mutations are
heritable mutations, these mutations trigger a series of events that may cause cancer

The discovery of these hidden heritable genetic mutations will help the family to manage
cancer, and targeted cancer treatment to save lives.

In general, the Mayo Clinic's large-scale genetic test for cancer patients shows that more
than one in eight cancer patients’ oncogene mutations are heritable, which means their
children, siblings and other relatives may also carry these oncogene mutations.

What's more, the study found that if standard cancer diagnosis and treatment guidelines
are followed, more than half of cancer patients will not be found to carry heritable genetic
mutations.

In addition, the study also showed that 28% of cancer patients were found oncogene
mutations after undergoing genetic testing, and their treatment plans would be
adjusted accordingly.

The research team said that for cancer patients and their families, the popularizing rate of
genetic testing is not enough. This is usually due to the outdated diagnosis and treatment
guidelines restricting genetic testing to a small number of high-risk patients. In fact, all
cancer patients should be arranged genetic testing. Obtain complete genetic information,
which can not only guide the treatment plan for patients, but also determine whether their
family members have related cancer risks, so as to develop corresponding cancer
prevention strategies for their families.

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for cancer therapy. Biochempeg has over 3000 high purity PEG linkers in stock to
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Reference:
Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With
Hereditary Cancer Syndrome