Home > English Articles > Hereditary Cancers: Are You at Risk and What Can You Do?

Hereditary Cancers: Are You at Risk and What Can You Do?

English Articles Nessun commento

 

Hereditary Cancers

Hereditary Cancers: Are You at Risk and What Can You Do?

Do you have a close relative who has had cancer? Do you wonder if you might be at risk too? Family history of cancer is a complex and sensitive issue, often causing anxiety and uncertainty. It’s important to know that not all cancers that occur in a family are hereditary. In many cases, a family history is due to shared environmental factors or lifestyles, rather than a genetic predisposition. However, in a percentage of cases, now believed to be higher than the previously estimated 5-10%, cancers can be caused by inherited genetic mutations, which significantly increase the risk of developing the disease.

Just to be clear: this article doesn’t reflect our own opinions, but the guidelines of expert oncologists and geneticists found on the web.

Heredity Does Not Mean Destiny

Having an inherited genetic mutation does not necessarily mean you will get cancer. It’s a predisposition, an added risk factor, which combines with other factors such as environment and lifestyle. As Professor Antonio Russo, Director of Oncology at the Policlinico di Palermo, explains, “Genetics is only one of the factors that lead to the development of a disease. Lifestyle, environment, and specific triggers also matter. Carriers of a genetic mutation will not necessarily develop cancer; they just have a higher risk of it happening.”

When to Suspect a Hereditary Cancer: The Warning Signs

There are some signs that may suggest the presence of a hereditary cancer in the family. These include:

    • Multiple cases of the same cancer (or related cancers) in close relatives (parents, siblings, children, grandparents, aunts, uncles).
    • Cancers arising at a young age (before age 50).
    • Bilateral cancers (for example, cancer in both breasts).
    • Multiple cancers in the same person.

“Of the total cancer cases, only a small portion are considered hereditary,” says Dr. Lorena Incorvaia, a researcher in Medical Oncology at the University of Palermo. According to the American Cancer Society, about 5% to 10% of all cancers are thought to be strongly linked to gene defects (called mutations) inherited from a parent. In 2024, the American Cancer Society estimates about 2,015,240 new cancer cases in the United States. Based on these data, the estimated number of hereditary cancers could range from approximately 100,762 to 201,524. For example, breast cancer will account for about 415,530 of new cancer cases, prostate cancer for about 299,010, colorectal cancer for 152,810 and ovarian cancer for around 20,700 of all new cancer cases in 2024. Hereditary breast and ovarian cancers (HBOC) associated with BRCA1 and BRCA2 mutations account for about 5-10% of all breast cancers and 10-15% of all ovarian cancers in the US.

For breast, ovarian, pancreatic, and prostate cancers, the genes most frequently involved are BRCA1 and BRCA2. Genetic counseling is recommended in the presence of:

  • A family member with a known mutation in a predisposing gene.
  • Male breast cancer.
  • Bilateral breast cancer before age 50.
  • Breast and ovarian cancer in the same person.
  • Triple-negative breast cancer.
  • Breast cancer before age 40.
  • Ovarian cancer (non-mucinous or borderline) at any age.
  • Pancreatic cancer (adenocarcinoma) or metastatic prostate cancer.
  • A close relative with breast cancer before age 50, bilateral breast cancer, ovarian cancer, male breast cancer, prostate cancer, or pancreatic cancer, and a breast cancer diagnosed before age 50.
  • Two or more cases of breast, prostate, or pancreatic cancer in the same family branch, and a breast cancer diagnosed after age 50.
  • A close relative with prostate cancer before age 60, and a prostate cancer.
  • Two or more close relatives with prostate cancer before age 50, and a prostate cancer.
  • Two or more close relatives with pancreatic cancer, and a pancreatic cancer.
  • Three or more family members with pancreatic cancer, and a pancreatic cancer.

Colorectal Cancer: MLH1, MSH2, MSH6, PMS2, APC, and other genes

For colorectal cancer, the genes most often involved are MLH1, MSH2, MSH6, PMS2, and APC, but also MUTYH, NTHL1, POLE, POLD1, STK11, SMAD4, BMPRR1A, and GREM1. Counseling is recommended in case of:

  • Colon cancer before age 50.
  • More than one colon cancer (or related cancers: uterus, ovary, bladder, stomach, pancreas) in the same person.
  • Colon cancer in a person with multiple colon polyps.
  • Multiple cases of colon cancer (or related cancers) among close relatives on the same side of the family (maternal or paternal).
  • At least one case of colon cancer or related cancers before age 50 among close relatives.
  • Positive result to universal screening for MMR protein analysis on removed tumor tissue.

Stomach Cancer: CDH1 gene

For stomach cancer, the most frequently involved gene is CDH1 (but also CTNNA1). Counseling is indicated in the presence of:

  • “Diffuse” gastric cancer before age 50.
  • “Diffuse” gastric cancer and personal or family history of cleft lip or palate.
  • “Diffuse” gastric cancer and lobular breast cancer in the same person before age 70.
  • “Diffuse” gastric cancer in people of Maori ethnicity.
  • Bilateral “lobular” breast cancer in the same person before age 70.
  • At least two cases among close relatives of “diffuse” gastric cancer, with at least one being “diffuse” type.
  • At least one case among close relatives of “lobular” breast cancer before age 70 and one case of “diffuse” gastric cancer.
  • At least two cases among close relatives of “lobular” breast cancer before age 50.

Melanoma: CDKN2A, CDK4, and other genes

For melanoma, the genes most often involved are CDKN2A and CDK4 (but also BAP1, POT1, TERF2IP, ACD, TERT, MITF, MC1R, ATM, and PALB2). Counseling is recommended in case of:

    • Patients with melanoma and at least two family members affected by melanoma.
    • Patients with melanoma and with at least one family member affected by kidney or pancreatic cancer or mesothelioma.
    • People with a history of multiple melanoma diagnoses or a diagnosis of melanoma and mesothelioma, kidney, or pancreatic cancer.
    • People with a history of atypical Spitz nevi.
    • People with suspected melanoma-associated syndrome.

If you suspect a hereditary predisposition, genetic counseling is the first step to assess your risk. “The hereditary-familial predisposition and the related cancer risk are established during a specialist visit, called genetic counseling, carried out by a multidisciplinary team consisting of an oncologist, a geneticist, and a psychologist,” explains Prof. Russo. During the consultation, the family history (family tree) is reconstructed and, if the requirements are met, a genetic test is proposed through a simple blood draw.

Genetic Testing: What Happens if it’s Positive?

If the genetic test identifies a mutation, it does not mean that you will definitely get sick, but that you have a higher risk than the general population. In this case, you will be able to access intensified surveillance programs, with targeted periodic check-ups, or consider risk-reduction interventions, such as prophylactic surgery in selected cases.

The Importance of Specialized Centers and PDTA:

It is essential to contact specialized cancer centers with multidisciplinary teams dedicated to the management of hereditary cancers. As Dr. Incorvaia points out, “Discovering that you are at risk of developing cancer and having to decide what to do can have a huge psychological impact.” For this reason, specialized centers offer a Diagnostic-Therapeutic-Assistance Pathway (PDTA) for people at high hereditary-familial risk, ensuring comprehensive support, from diagnosis to patient management.

A New Counseling Model: Mainstreaming Cancer Genetics

In recent years, a new counseling model called “Mainstreaming Cancer Genetics” has emerged, in which oncologists or other specialists in the cancer patient’s care pathway can directly refer the patient for genetic testing for therapeutic purposes. This occurs, for example, in the case of the BRCA test for patients with non-mucinous and non-borderline ovarian cancer, for patients with metastatic prostate cancer, and only for specific categories of patients with breast cancer, who may benefit from treatment with specific drug categories.

What to Do if You Have a Family History of Cancer:

If you have a family history of cancer, talk to your primary care physician. They will assess your family history and, if necessary, refer you to genetic counseling at a specialized center. Genetic counseling can help you understand your risk, make informed decisions about your health, and access personalized prevention pathways.

Conclusion:

Knowledge is the first step to prevention. Learning about hereditary cancers, knowing your family history, and, if necessary, undergoing genetic counseling can make a difference in reducing the risk of getting sick and in dealing with the disease with greater awareness.

Do you have other questions about hereditary cancers? Do not hesitate to consult your doctor or contact a specialized cancer center.

Tags:,

Altri articoli sull'argomento

Lascia un commento e ti risponderò!

Il tuo indirizzo email non sarà pubblicato.