An estimated 15% to 20% of colorectal cancers are related to a familial cancer syndrome
Lhermitte-Duclos disease is closely associated with Cowden's syndrome, a rare, autosomal-dominant, familial cancer syndrome
characterized by multiple hamartomas and neoplasms of ectodermal, mesodermal, and endodermal origin.
For example, if a patient's grandmother had breast cancer when she was 65, an aunt had cervical cancer at age 25, and an uncle had lung cancer because he smoked, that may indeed be a strong family history of cancer, but when you ask if this is consistent with a familial cancer syndrome
, it is not," Dr.
We're not suggesting that every familial cancer syndrome
involves p53," he says.
This year's Mott award winners discovered Li-Fraumeni syndrome, a familial cancer syndrome
which can now be detected through a genetic testing program pioneered by this pair of researchers.
Despite varying hypotheses for development of additional tumors--such as decreased immunity, familial cancer syndromes
, hormone secretion, radiotherapy, and environmental effects-the authors concluded that coincidental cancer clusters probably accounted for most of their cases (7).
Young-onset cancer is a hallmark of many familial cancer syndromes
, but it was not clear whether family members of young-onset familial pancreatic cancer patients were at greater risk than family members of older-onset patients.
These may be genes associated with other familial cancer syndromes
or may largely be associated with increased breast cancer risk.
1 issue and subsequent issues, we will cover specific topics of interest to the practicing internist, including pharmacogenetics, use of electronic family history tools, familial cancer syndromes
, evaluation of patients with joint laxity, and genetic testing in cardiovascular disease.
Some forms of genetic testing, such as testing for familial cancer syndromes
, have been well examined by medical societies (1), insurance companies (2), and others (3, 4).
Lynch at Creighton University's Hereditary Cancer Institute, is considered the grandfather of familial cancer syndromes
will apply NGS to eight areas of interest: pediatric bone marrow transplantation, congenital eye disorders, familial cancer syndromes
, cardiology, congenital hearing loss, neurogenetics/neuromuscular disorders, genetic and metabolic pediatric disorders, and intersex disorders.