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Gastrointestinal cancer
Published in Peter Hoskin, Peter Ostler, Clinical Oncology, 2020
Hereditary non-polyposis colon cancer (HNPCC) is synonymous to Lynch syndrome and accounts for up to 4% of cases. This is a dominantly inherited condition, i.e. there is a 50% chance of inheriting the mutated DNA mismatch repair gene from an affected parent. Unlike familial adenomatous polyposis (FAP), there are no characteristic extracolonic physical signs and there is no propensity to develop a multitude of polyps. Colon cancer on average develops at 40 years of age and individuals have a 70%–80% chance of developing bowel cancer by the age of 70 years. Families can be divided into Lynch syndromes I and II. In Lynch syndrome I, the cancers are mainly gastrointestinal. In Lynch syndrome II, endometrial and ovarian cancers may arise at a young age.
Epidemiologic Linkage: Diet, Genetics, and Cancer
Published in Maryce M. Jacobs, Vitamins and Minerals in the Prevention and Treatment of Cancer, 2018
Certain facets of hereditary cancer’s natural history appear with sufficient frequency among putative carriers of the deleterious cancer-prone gene(s) as to lead to their characterization as “cardinal principles of cancer genetics.” These features include the following: a) early age of cancer onset, often 15–20 years earlier than its sporadic counterpart.2,3,6,15 However, early onset is not an invariable finding in that we are now learning that an unknown fraction of hereditary cancer patients may show a later age of cancer onset; b) an excess of bilaterality when paired organs are of concern,2 such as the breast and ovary in hereditary breast/ovarian cancer syndrome;3,16 c) integral patterns of multiple primary cancer in specific hereditary cancer syndromes,17 such as in Lynch syndrome II; d) the occurrence of premonitory physical signs, as in the cancer-associated genodermatoses,4 and/or biomarkers which associate with the respective cancer-prone genotypes;18 e) Mendelian inherited patterns of cancer transmission within kindreds wherein the majority of such disorders appear to be consonant with an autosomal dominant mode of genetic transmission;2–6 and finally, f) in certain hereditary cancers, such as carcinoma of the breast and in colon cancer in Lynch syndromes I and II, there appears to be improved survival when these lesions are compared by appropriate staging with historical controls.19
Lynch syndrome and sextuple primary malignancies
Published in Acta Chirurgica Belgica, 2018
Donatas Danys, Eugenijus Stratilatovas, Vaidas Cereska, Tomas Poskus
In August 2014, patient was admitted to abdominal surgery department in Vilnius University Hospital Santariškiu Clinics. Abdominal and pelvic CT was performed, which showed infiltrated segment of ascending colon, without infiltration of pericolic tissue. After that, a colonoscopy with biopsy from cecum and ascending colon was carried out. Biopsy results were moderately differentiated adenocarcinoma G2 and mucinous adenocarcinoma G3, respectively. Right hemicolectomy was performed. Imunohistochemical (IH) analysis revealed absence of MSH2 and MSH6 proteins. Reaction to MLH1 and PMS2 was positive. In addition, IH test was performed on a specimen from 2003 of poorly differentiated stomach adenocarcinoma (G3; pT2N1). It was negative for MsH2/MsH6 and positive for MLH1 and PMS2. Molecular genetic analysis was performed. Pathological MSH2 gene mutation in 12th exon was found. Molecular genetic testing confirmed Lynch syndrome II diagnosis. Genetic consulting was recommended for her relatives.