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 25 May 2018

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News

Li-Fraumeni syndrome increases colorectal cancer risk

Li-Fraumeni syndrome with germline p53 mutations may increase susceptibility to colorectal cancer, up to several decades earlier than the general population, finds this month's Gastroenterology.

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Hereditary colorectal cancer is associated with the hereditary nonpolyposis colorectal cancer or familial adenomatous polyposis syndromes.

Dr Patricia Wong and colleagues investigated the prevalence of early onset colorectal cancer.

The research team assessed the frequency of p53 germline mutations in 64 families from a Li-Fraumeni syndrome registry.

The team included patients with documented colorectal cancer and a diagnosis at or before age 50.

P53 analyses were performed through germline mutational analyses using standard molecular techniques.

The researchers assessed 397 patients and 64 families in the classic Li-Fraumeni syndrome registry.

13% of families in the registry had colorectal cancer at age less than 50
Gastroenterology

The team reported that a total of 11 patient from 10 different families met the criteria for classic Li-Fraumeni syndrome.

Colorectal cancer was documented at less than 50 years of age.

The mean age at diagnosis in this group was 33 years and of these patients 4 developed colorectal cancer before age 21.

The researchers noted that all families tested for p53 mutations had evidence of germline mutations by sequence analysis.

Therefore, 13% of the total number of families in the registry had colorectal cancer at age less than 50 years and a documented germline p53 mutation.

The team found that mutations were primarily missense or nonsense and were located between exons 4 to 10.

Dr Wong's team concluded, “Li-Fraumeni syndrome patients with germline p53 mutations may have an increased susceptibility to colorectal cancer, up to several decades earlier than the general population.”

“Li-Fraumeni syndrome should be considered when a young patient presents with colorectal cancer.”

Gastroenterol 2006: 130(1): 73-9
20 January 2006

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