Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred
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چکیده
منابع مشابه
Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred.
BACKGROUND Heterozygous germline mutations in DNA mismatch repair (MMR) genes cause Lynch syndrome. Biallelic MMR mutations cause a distinct syndrome characterized by brain tumors, lymphoid malignancies, and gastrointestinal cancers during childhood. These children usually succumb to multiple cancers before adulthood. We developed a surveillance protocol aiming at early detection for these indi...
متن کاملOncologic surveillance for subjects with biallelic mismatch repair gene mutations-10 year follow-up in a kindred
Background Lynch syndrome (LS) is caused by heterozygous germline mutations in the DNA mismatch repair (MMR) genes and is a highly penetrant autosomal dominant condition. A novel childhood cancer syndrome caused by biallelic germline MMR gene mutations and characterized by brain tumors, leukemias, gastrointestinal (GI) polyposis, GI cancer and café-au-lait spots (CALS) has been described. We re...
متن کاملPediatric duodenal cancer and biallelic mismatch repair gene mutations.
Gastrointestinal malignancies are extremely rare in the pediatric population, and duodenal cancers represent an even more unusual entity. Intestinal cancers in young adults and children have been observed to be associated with functional deficiencies of the mismatch repair (MMR) system causing a cancer-predisposition syndrome. We report the case of a 16-year-old female with duodenal adenocarcin...
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BACKGROUND Iatrogenic complications such as accidental perforation of the root or the floor of the pulp chamber may occur. CASE REPORT Patient was referred for root canal retreatment of the mandibular left second molar with periapical lesion evidenced through radiographic examination. During post removal, iatrogenic perforation occurred at the mesial face of the distal root. After clinical lo...
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ژورنال
عنوان ژورنال: Pediatric Blood & Cancer
سال: 2011
ISSN: 1545-5009
DOI: 10.1002/pbc.24019