According to the National Cancer Registry Programme of the Indian Council of Medical Research (ICMR), the incidence of cancer cases in India was 13,92,179 in 2020, 14,26,447 in 2021, and 14,61,427 in 2022. The National Cancer Registry Programme Report 2020 expects this figure to shoot up by 12.8% by 2025, with lung, breast, and leukemia being the leading cancers in men, women, and children, respectively.

Genes do not totally dictate the development of cancer. However, family history can increase its risk. In such cases, hereditary cancer genetic testing can provide valuable insights into your risk and help you evaluate further courses of action.

Hereditary Cancers

Cancer is a disease of uncontrolled cell growth. Though all cancers result from an accumulation of genetic alterations or mutations within cells, some of these alterations are acquired over the course of life due to exposure to carcinogens, while others run in families. The latter is passed from parent to offspring and accounts for 5-10% of all known cancers, termed Hereditary Cancers.

Below are the common Hereditary Cancers and the gene mutations most frequently involved:

Type of cancer	List of the most common gene mutations
Breast	BRCA1, BRCA2, ATM, PALB2, TP53, BARD1, CHEK2, PTEN, CDH1, STK11, RAD51C, RAD51D
Colorectal	MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, POLE, POLD1, GREM1, STK11, PTEN, PALB2, TP53, CHEK2, ATM
Endometrial	MLH1, MSH2, MSH6, PMS2, EPCAM, PTEN,TP53, STK11, BRCA1*
Fallopian tube, ovarian and primary peritoneal	BRCA1, BRCA2, BARD1, BRIP1, CHEK2, MRE11, MSH6, NBN, PALB2, RAD50, RAD51C, RAD51D, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2
Gastric	CDH1, CTNNA1, BRCA2, STK11, SDHB, PRSS1, ATM, MSR1, PALB2
Melanoma	CDKN2A, CDK4, RB1, MC1R
Pancreatic	BRCA1, BRCA2, PALB2, CDKN2A, ATM, MLH1, MSH2, MSH6, PMS2, EPCAM, TP53, STK11
Prostate	MLH1, MSH2, MSH6, PMS2, BRCA1, BRCA2, ATM, PALB2, CHEK2

*BRCA1 has been linked to a rare but very aggressive type of endometrial cancer.

Retrieved and modified from: Genes with mutations linked to hereditary cancer risk. Table of different genes and the hereditary cancers that they cause. (n.d.). Retrieved March 27, 2023, from https://www.facingourrisk.org/info/hereditary-cancer-and-genetic-testing/genes-by-cancer-types

Did You Know? BRCA 1/2 mutations are commonly detected in Hereditary Breast and Ovarian cancers, Pancreatic, Gastric and Prostate Cancers. To know more about BRCA testing for Breast Cancer and Ovarian Cancer, check out our blog here. Though these genetic risk factors cannot be changed, individuals with a family history of cancer will benefit from timely genetic testing. Choosing a comprehensive and affordable panel then becomes crucial.

Benefits of Hereditary Cancer Genetic Testing

Hereditary Cancer Risk Assessment- Hereditary Cancer Risk Assessment can predict the risk of developing cancer when you or a family member possess a deleterious mutation. These results also have implications for future generations.

Informed decision-making- Knowing that you are positive for a pathogenic mutation allows you to take precautionary steps entailing surgery, medications, periodic screenings, and lifestyle changes. Family members who do not possess deleterious mutations can avoid invasive screenings and are free of the burden of uncertainty.

Disease prognostication- Screening not only helps your oncologist identify the best treatment plan for you but also helps monitor disease progression and response to treatment.

To know more about the benefits of Hereditary Cancer testing, click here.

Who should take up the Hereditary Cancer Gene Panel test?

You may be a candidate for Hereditary Cancer Gene Panel testing if:

• Two or more relatives on the same side of the family are affected with the same type of cancer.
• Several generations of your family are affected with cancer.
• You or your family members were diagnosed with cancer at an early age.
• You have a family history of childhood cancers, rare cancers, same or genetically related cancers (breast and ovarian cancer, or colon and uterine cancer), cancers occurring in both of a pair of organs (both eyes, both kidneys, or both breasts), or in the sex not typically affected (such as male breast cancer).
• You show physical signs which are known to be associated with hereditary cancers (like moles or polyps)

Hereditary Cancer Gene Panel at 4baseCare

Germline+ by 4baseCare is a Next Generation Sequencing Hereditary Cancer Gene Panel that screens an 163 genes to detect mutations associated with different Hereditary Cancers including breast, ovarian, uterus, prostate, gastrointestinal system, stomach, colon, rectum, small bowel & pancreas besides other solid cancer types. Germline+ also screens for mutations in genes involved in Homologous Recombination and Repair pathway (HRR pathway), which helps predict cancer response to PARP inhibitor treatment.

These invaluable insights enable oncologists to make better treatment decisions: choosing the best-personalized therapy options based on genomic alterations.

How is Genetic testing done?

A licensed phlebotomist will perform the blood test. You do not require any special prior preparations. The phlebotomist will insert a small needle into your vein, collect the sample in a Streck tube (A Streck Tube is a special blood collection tube with a preservative that stabilizes blood cells and prevents them from releasing their DNA. This allows isolation of high-quality cell-free DNA for genomic analysis.) and ship it if required under appropriate storage conditions within 48-72 hours.

For a run-through on the sample collection procedure, check out the video.

Why should you get tested at 4baseCare?

4baseCare’s genetic testing portfolio represents a dual focus: Accessibility and Affordability. It is curated such that every patient gets access to the most advanced genomic solutions, true to our purpose of providing cancer patients with the best chance at fighting cancer.

We are a comprehensive, qualified team of genetic counselors, laboratory professionals, care companions, and allied health experts, here to give you holistic support throughout your cancer journey. Through OncoBuddy, our Next- Gen Digital Cancer Care platform, we provide cancer patients and their caregivers with unique and holistic features to give them the best chance at fighting cancer.

Download OncoBuddy to start experiencing it’s features today.

How do you book a Hereditary Cancer Gene Panel Testing at 4baseCare?

Click here to book your Hereditary Cancer Genetic Test.

If you have any queries, please write to us at info@4basecare.com and one of our experts will get back to you at the earliest.

Please note that our panels are for diagnostic purposes only, and in no way replace treatment. Please consult a genetic counselor and oncologist before taking up the test and further medical action.

References

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