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Infantile and childhood hepatoblastoma (HB) occurs more frequently in children with hereditary predisposition to familial adenomatous polyposis (FAP) than in the general population. The occurrence of HB in two infant siblings is reported. The sister died of the disease. The brother survived the HB and was later diagnosed with familial adenomatous polyposis and advanced rectal cancer. He was found to carry a germline mutation of the APC gene. Presuming that the HB in the two siblings was the first manifestation of FAP we performed APC mutation analysis in DNA from archived tumour tissue of his sister and in blood samples of both parents. Surprisingly, the mutation was neither found in both parents, nor in the tissue samples of the sister. We outline the impact of this finding for genetic counselling and review the literature on FAP and HB.
Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120, Heidelberg, Germany, email@example.com.
This article was published in the following journal.
Name: Familial cancer
To analyze the characteristics of germline mutations of adenomatous polyposis coli (APC) gene in pedigrees affected with familial adenomatous polyposis (FAP).
To characterize APC gene mutations and correlate them with patient phenotypes in individuals diagnosed with familial adenomatous polyposis (FAP) in northern Brazil.
To evaluate the safety, feasibility and efficacy of Laparoscopic prophylactic treatment of familial adenomatous polyposis (FAP).
Because of the rarity of familial gastrointestinal cancer-predisposing syndromes, their exploration in literature is not extensive. In this review, an update of the clinicopathological and molecular c...
Adenomatous Polyposis Coli (Apc) is a tumor suppressor that inhibits Wnt/Ctnnb1. Mutations of Apc will not only lead to familial adenomatous polyposis that is an epithelial lesion, but also cause aggr...
The purpose of this study is to assess if curcumin, a commonly used food spice, can regress colorectal adenomatous polyps in patients with familial adenomatous polyposis, an inherited form...
To test whether celecoxib can be used to prevent colon polyp formation in children with familial adenomatous polyposis (FAP).
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Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.
A negative regulator of beta-catenin signaling which is mutant in ADENOMATOUS POLYPOSIS COLI and GARDNER SYNDROME.
A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.
A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. The lifetime risk of colorectal cancer in these patients reaches 100 percent by age 60.
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
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