Decoding Genetic Mysteries Of Cancer

by Yashoda Hospitals | Nov 23, 2023 | Cancer

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1. Understanding the Genetic Basis of Cancer

2. Cancer Genetics Counseling: Role & Importance

Is cancer hereditary? Can cancer be genetically acquired? are the most commonly asked questions and sought answers for. Deciphering the genetic variations and mutations within cancer cells that drive their uncontrollably fast growth and proliferation is a crucial part of oncology, or understanding the DNA of cancer. By understanding the genetic code of cancer, scientists and medical experts often build upon the knowledge passed down through generations by parents and grandparents, this provides important insights into the disease’s causes. This understanding helps in constructing patient-specific treatment regimens and targeted treatments. This enhanced understanding of cancer at the DNA level opens the door to better patient outcomes and advances in oncology science.

Understanding the Genetic Basis of Cancer:

Cancer is a disease of uncontrolled cell growth, often triggered by genetic alterations. The intricate network of genes, both oncogenes and tumor suppressor genes, plays a critical role in maintaining the delicate balance within the cellular environment. Mutations, whether inherited or acquired over time due to environmental factors, can disrupt this balance and lead to the initiation of cancer cell production and growth.

Some individuals carry genetic variations that predispose them to certain types of cancer. Hereditary forms of cancer, such as breast, ovarian, and colorectal cancers, have been linked to specific gene mutations, such as BRCA1 and BRCA2. Understanding these genetic predispositions empowers individuals and healthcare professionals to adopt proactive measures for the early detection, prevention, and progression of cancer..

Cancer Genetics Clinical Services offers a thorough understanding of genetic factors influencing cancer susceptibility. Through specialized testing and counseling, individuals gain insights for informed decision-making on risk assessment, screening, and personalized interventions. These services bridge genetic research and clinical applications, advancing precision medicine in oncology and improving outcomes.

Cancer Genetic Counseling: Role & Importance

Cancer genetics is a field of study that focuses on the factors contributing to the development and progression of cancer. To help one understand the correlation and impact of genes on cancer causation, multiple steps play a vital role. Where the counselor assesses the family’s health history and discusses the potential risks associated with inherited cancer. Specific cancer-related genetic mutations can heighten an individual’s vulnerability to cancer, either inherited or acquired due to environmental factors. If genetic testing for cancer is considered, the counselor provides information about the tests and assists in determining their relevance for the individual, which helps with:

Arriving at a specific diagnosis
Risk Assessment ( risk of developing the disorder and/or transmitting it to the offspring)
Practical Guide (helps the healthcare professional carry out specialized examinations)

When is someone referred for genetic counseling?

If your doctor suspects that cancer is of the genetic or hereditary type
In cases of advanced cancer stages, finding a gene mutation could help decide on a new line of treatment for cancer recurrence or improve their chances of cure.
When a patient or family member is keen to know if their cancer is of the hereditary type,
Individuals who are keen about their risk of having a germline mutation identified in a family
Individuals who want to know about the risk of passing on to their children or future offspring

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Genetic and Predictive Testing

It is used to identify specific genetic mutations associated with an increased risk of developing certain types of genetic cancer. Understanding the basis of cancer can help individuals identify the risk they have developed in certain areas, such as breast, prostate, and ovarian cancers. Here are some common types of genetic cancers:

Breast & Ovarian Cancer: Mutations in the BRCA1 and BRCA2 genes are linked to an increased risk of breast & ovarian cancer.
Colorectal Cancer: Genetic factors, including mutations in genes such as APC, TP53, and mismatch repair genes (MLH1, MSH2, MSH6, PMS2), can contribute to colorectal cancer development.
Pancreatic Cancer: Certain genetic syndromes, like hereditary pancreatitis, and mutations in genes such as PALB2 and p16, can increase the risk of pancreatic cancer.
Lung Cancer: Smoking is a major cause, but genetic factors, including mutations in the EGFR gene, can influence susceptibility to some types of lung cancer.
Prostate Cancer: Family history and specific gene mutations, like those in the BRCA2 gene, can contribute to an increased risk of prostate cancer.
Melanoma: Skin cancer, especially melanoma, can have a genetic component. Mutations in genes like BRAF and CDKN2A are associated with an increased risk of melanoma.
Thyroid Cancer: Certain genetic syndromes, such as familial medullary thyroid cancer, are associated with an increased risk of thyroid cancer.
Leukemia: Various types, including chronic myeloid leukemia (CML) and acute lymphoblastic leukemia (ALL), can have genetic origins. Chromosomal abnormalities, like the Philadelphia chromosome in CML, are examples.
Lymphoma: Lymphomas, including Hodgkin lymphoma and non-Hodgkin lymphoma, can be associated with genetic factors. For instance, mutations in genes like BCL2 and MYC are implicated in certain lymphomas.

Decoding the Process of Genetic Testing

Genetic testing is done on DNA extracted from a blood sample or, sometimes, a saliva sample.
Depending on the personal and family history of cancer, a clinical hereditary cancer syndrome is suspected, and associated genes are tested or sequenced by special methods.
This can be checked by Next Generation Sequencing (NGS) of a panel of 30-100 genes. This is a very specialized test that usually takes 4-6 weeks to get the report.

Personalized Cancer Care : Presence of a Predisposition Genes indicate that individuals might have a high risk of developing cancer. Based on the gene, cancer, age, and sex, your doctor plans personalized treatment that includes immunotherapies and targeted medicines, providing better results and fewer side effects. Once the doctor finds that the individual is at high risk, a stepwise treatment plan is created based on the type of mutated gene found, which include:

Cancer Screening and early detection by active surveillance Scans: Mammography, MRI, Endoscopy and Blood tests- tumor markers (CEA, CA-125)
Chemoprevention: Preventing some cancers with drugs like Tamoxifen and Aspirin
Systemic therapy: Immunotherapy for cancers with mutations in some genes

Predictive testing

Few tests are conducted on healthy extended family members, including children, siblings and other family members who can be healthy carriers
Intensive surveillance for early detection and preventative options by electing prophylactic surgeries
Prenatal genetic testing techniques can be explored/ discussed.

Future in Cancer Genetics

Collaboration between scientists, physicians, and IT specialists is essential for the future of cancer genetics. Their joint efforts are essential for developing efficient cancer prevention, detection, and treatment strategies. Deeper exploration of the intricate molecular underpinnings of cancer is being done through ongoing research in cancer genetics. With a deep understanding of the complexities of genetics and the application of state-of-the-art technology, collaborative efforts seek to transform the treatment of cancer. This collaborative spirit promises a better and more hopeful future for patients and their families by opening the way for individualized and highly effective therapies.

Frequently Asked Questions:

How does genetic counseling help in cancer screening?
Genetic counseling helps individuals and families affected by or at risk of genetic disorders understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.
Are all types of cancer hereditary?
No, not all types of cancer are hereditary. The majority of cancers are a combination of genetic and environmental factors, such as lifestyle choices and exposure to carcinogens like tobacco, alcohol, etc.
What is a hereditary cancer risk assessment?
Hereditary cancer risk assessment is done by obtaining personal and family history that may indicate any genetic predisposition to certain types of cancer, along with imaging and pathology reports.
Is blood cancer hereditary?
It has been found that first degree relatives/immediate family members are at a higher risk of inheriting certain types of blood cancer.
What are the most commonly inherited cancers?
Breast and ovarian cancers in females, prostate and colon cancers in males are the most commonly inherited cancers.
Is cancer genetic or not?
Genetic factors can contribute to the development of some cancers, other factors such as lifestyle and environmental exposures also play significant roles in the onset of the disease.
Is lung cancer hereditary?
While genetics can play a role in lung cancer, the majority of cases are attributed to smoking and environmental factors rather than direct heredity.
Is cancer hereditary from parents or grandparents?
Yes, cancer can have a hereditary component, as genetic factors passed down from both parents and grandparents can contribute to an individual’s susceptibility to the disease.