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Characteristics of Hereditary, Familial and Sporadic Cancer Syndromes August 1, 2007

Posted by ramunas in basic concepts, cancer genetics, familial cancer, hereditary cancer, sporadic cancer.

In a recently published recommendations for risk assessment and genetic counseling for hereditary breast and ovarian cancer (HBOC) in a Journal of Genetic Counseling, there is a very useful definition of 3 main type of cancer (from a geneticist point of view):
I. “Hereditary Cancer type” characteristics:

  • Apparently autosomal dominant transmission of specific cancer type(s)
  • Earlier age of onset of cancers than is typical
  • Multiple primary cancers in an individual
  • Clustering of rare cancers
  • Bilateral or multifocal cancers
  • First degree relatives of mutation carriers are at 50% risk to have the same mutation
  • Incomplete penetrance and variable expressivity, such that obligate carriers of the family mutation may be cancer-free and the age of diagnosis of cancer among relatives will vary
  • Those who do not have the familial mutation have the general population risk for cancer

II. “Familial Cancer type” chatacteristics:

  • More cases of a specific type(s) of cancer within a family than statistically expected, but no specific pattern of inheritance
  • Age of onset variable
  • May result from chance clustering of sporadic cases
  • May result from common genetic background, similar environment and/or lifestyle factors
  • Does not usually exhibit classical features of hereditary cancer syndromes

III. “Sporadic Cancers type” characteristics:

  • Cancers in the family are likely due to nonhereditary causes
  • Typical age of onset
  • Even if there is more than one case in the family, there is no particular pattern of inheritance
  • Very low likelihood that genetic susceptibility testing will reveal a mutation; testing with available technology/knowledge level will likely not provide additional information about cancer risk.

This classification can help in quantifying risks to individual family members and developing a plan for cancer screening, prevention, risk reduction and psychosocial support and counseling. It also helps in the determination of whether genetic testing is appropriate for the family, and if so, which relative(s) would be the appropriate individual(s) to test. Unfortunately, the separation of families into hereditary, familial, and sporadic cancer is often not precise.

With a growing knowledge in low penetrance genes those families which were regarded as sporadic could be reclassified to familial cases. For more information please also take a look at my first post on this blog.



1. » This week in health and science - 8/3/07 - Women's Health Research News blog from IdeasForWomen.com - August 4, 2007

[…] ramunas lists some very nice characteristics of hereditary, familial and sporadic cancers. […]

2. Hereditary Cancer Public Perception | Cancerbackup « www.cancer-genetics.com - August 13, 2007

[…] that is true. But again – there is another type of cancer – familial, which could account up to 30% of cases. For example, up to 27% of breast cancer can be attributed […]

3. Aristotelis Kontogiannis - January 6, 2010

I am student of medicin, doing an assignment
relevant to these classifications.
I would appreciate if could tell me
where could i find
more information about the
moleculars of
brca, prostate, crc, Lung cancers
with this classification.

with all the respect
Aristotelis Kontogiannis

4. Elisha Cosby - December 15, 2017

I have a very interesting case. I’m 47, black female, mother of 5, grandmother now. My father fought in the Vietnam War. I lived on a base that was connected to water being contaminated, I drank, showered, bathed, swam, for 3 years. At 41 I was diagnosed with breast cancer, was scheduled for 8 rounds of chemo, I choose 3. Years later following my 2nd hip replacement is when my OBGYN decided to check on this. Did the saliva test with BRACAnalysis and my results were positive, clinically significant mutation identified. How did this mutation come about and how does a mutation choose it’s host? I’m really concerned. Yes we are in process of prevention.

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