Rare cancers and hereditary risk: what genetic counseling can tell you

When people think about hereditary cancer, a few familiar names usually come to mind. Breast cancer. Colon cancer. Maybe ovarian cancer. These are the cancers that show up most often in awareness campaigns, so it makes sense that they shape how most of us picture inherited risk.

But hereditary cancer is much broader than that short list. Some of the strongest signals of an inherited predisposition come from cancers that are far less common. If you or a family member has been diagnosed with a rare or unusual cancer, that is often a reason to look more closely at genetics, not less.

The misconception we hear often

A lot of people assume that genetic testing only matters when there is breast or colon cancer in the family. Someone with a rarer diagnosis may decide that genetic counseling is not for them, or that their cancer is too unusual to have a known genetic cause.

In many cases, certain rare cancers are red flags for hereditary syndromes, and their presence can raise the likelihood that an inherited gene change is involved.

Why rare cancers can raise the question

Common cancers develop for many reasons. Age, environment, and everyday exposures all play a part, so a common cancer in one relative does not always point to an inherited cause. Rarer cancers work differently. When a tumor type is unusual, there is often less of an everyday explanation for it, which is part of why some rare cancers are more closely tied to specific inherited gene changes.

That does not mean a rare diagnosis is always hereditary. It means the question is worth asking, and that a careful look at your history can help sort out how likely an inherited cause really is.

Rare cancers that can point to inherited risk

Hereditary cancer syndromes are linked to a wide range of tumor types. A few examples:

• Kidney cancers, including renal cell carcinoma, which can be associated with syndromes such as von Hippel-Lindau, Birt-Hogg-Dubé, and hereditary leiomyomatosis and renal cell cancer

• Pancreatic cancer, which can be linked to changes in genes like BRCA2, PALB2, ATM, and the Lynch syndrome genes

• Medullary thyroid cancer and certain adrenal tumors, which can point to conditions such as multiple endocrine neoplasia

• Paraganglioma and pheochromocytoma, which are frequently connected to inherited gene changes

• Sarcoma and adrenocortical carcinoma, which can be features of Li-Fraumeni syndrome

• Diffuse gastric cancer, which can be associated with changes in the CDH1 gene

• Certain melanomas, which can be linked to genes such as CDKN2A and BAP1

  
  

This is not a complete list, and it is meant to give a sense of the range rather than serve as a checklist. We evaluate hereditary risk for all cancer types, not only the common ones.

Signs that genetics may be worth exploring

A rare tumor type is one reason to consider genetic counseling. There are others that apply across all cancers, common or not:

• A cancer diagnosis at a younger age than expected

• More than one primary cancer in the same person

• The same or related cancers appearing in several close relatives

• A gene change already identified in the family

• A tumor type that is uncommon or that occurs in an unusual pattern

  
  

You do not need all of these to benefit from a conversation. Even one can be enough of a reason to take a closer look.

What genetic counseling actually involves

Genetic counseling is not the same as ordering a test and reading the result. We start by reviewing your personal and family history to understand what your risk actually looks like. From there we can talk through whether testing makes sense, which test would be most informative, and what the possible results would mean for you.

If testing is done, we help you understand what it found. A result can guide screening and prevention, inform treatment conversations with your other providers, and let close relatives know whether they should consider testing too. A result that does not find a gene change still gives you useful information, because it can help rule certain explanations in or out and shape what you and your providers watch for going forward.

What a result can mean for your family

Hereditary cancer risk does not stay with one person. When an inherited gene change is found, close relatives may share it, and knowing that can change how they approach screening and prevention long before any cancer appears. Parents, siblings, and children can each carry the same change, and testing for a known family result is usually more straightforward than the first test in a family.

This is one of the reasons genetic counseling is worth the time even when the cancer itself has already been treated. The information can help the next generation make earlier and better informed choices about their own care.

What to expect from a visit

Our visits are telehealth, so you can meet with us from home. Before your appointment we gather some background on your personal and family history, which helps us make the most of the time together. During the visit we walk through what your history suggests, answer your questions, and decide together on next steps. If testing is part of the plan, we explain how the sample is collected and what the timeline looks like, then follow up with you once results are back.

How to get started

You do not need a physician referral to work with us. Empower Genetics is a direct-pay telehealth practice, so you can book from wherever you are. We accept HSA and FSA payments and provide a superbill you can submit to your insurance for possible reimbursement.

If you have a personal or family history of a rare cancer and you have wondered whether genetics plays a role, we would be glad to help you figure that out. You can book a visit or a free discovery call through our website.