[Hereditary colonic carcinoma without polyposis (HNPCC) without satisfying the Amsterdam criteria]. 2000

S Kastl, and K Günther, and S Merkel, and W Hohenberger, and W G Ballhausen
Chirurgische Klinik mit Poliklinik, Universität Erlangen-Nürnberg, Erlangen. sdkastl@aol.com

Epidemiologic data suggest that an underlying genetic disposition can be detected in up to 10% of all colorectal cancer patients and autosomal dominantly inherited hereditary non-polyposis colorectal cancer (HNPCC) is the entity most frequently identified. It was described first by A. Warthin in 1895 in "Family G" and is characterized by a predisposition to an early onset of colorectal cancer and other intestinal or genitourinary tumors. We report the case of a 61-year-old woman with five different cancers. Although the strict Amsterdam Criteria were not fulfilled, molecular analysis revealed HNPCC; further genetic testing in the family confirmed that the 36-year-old and so far healthy son had inherited the germline mutation of his affected mother. Genetic testing in clinically suspected HNPCC cases is recommended for patients with colorectal cancer meeting the Amsterdam Criteria. In patients meeting one of Bethesda Criteria 2-7 without meeting the Amsterdam Criteria, germline mutation analysis is recommended only in MSI-positive tumors.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009378 Neoplasms, Multiple Primary Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites. Neoplasms, Synchronous,Neoplasms, Synchronous Multiple Primary,Multiple Primary Neoplasms,Multiple Primary Neoplasms, Synchronous,Synchronous Multiple Primary Neoplasms,Synchronous Neoplasms,Multiple Primary Neoplasm,Neoplasm, Multiple Primary,Neoplasm, Synchronous,Primary Neoplasm, Multiple,Primary Neoplasms, Multiple,Synchronous Neoplasm
D012086 Reoperation A repeat operation for the same condition in the same patient due to disease progression or recurrence, or as followup to failed previous surgery. Revision, Joint,Revision, Surgical,Surgery, Repeat,Surgical Revision,Repeat Surgery,Revision Surgery,Joint Revision,Revision Surgeries,Surgery, Revision
D003123 Colorectal Neoplasms, Hereditary Nonpolyposis A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer. Colon Cancer, Familial Nonpolyposis, Type 1,Colorectal Cancer, Hereditary Nonpolyposis, Type 1,Familial Nonpolyposis Colon Cancer Type 1,Hereditary Nonpolyposis Colorectal Cancer,Hereditary Nonpolyposis Colorectal Cancer Type 1,Hereditary Nonpolyposis Colorectal Neoplasms,Lynch Syndrome,Colon Cancer, Familial Nonpolyposis,Colorectal Cancer Hereditary Nonpolyposis,Familial Nonpolyposis Colon Cancer,Hereditary Nonpolyposis Colon Cancer,Lynch Cancer Family Syndrome I,Lynch Syndrome I,Syndrome, Lynch
D005260 Female Females
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D014565 Urogenital Neoplasms Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female. Genitourinary Cancer,Genitourinary Neoplasms,Urogenital Cancer,Genito-urinary Cancer,Genito-urinary Neoplasm,Neoplasms, Genitourinary,Neoplasms, Urogenital,Cancer, Genito-urinary,Cancer, Genitourinary,Cancer, Urogenital,Cancers, Genito-urinary,Cancers, Genitourinary,Cancers, Urogenital,Genito urinary Cancer,Genito-urinary Cancers,Genito-urinary Neoplasms,Genitourinary Cancers,Genitourinary Neoplasm,Neoplasm, Genito-urinary,Neoplasm, Genitourinary,Neoplasm, Urogenital,Neoplasms, Genito-urinary,Urogenital Cancers,Urogenital Neoplasm

Related Publications

S Kastl, and K Günther, and S Merkel, and W Hohenberger, and W G Ballhausen
November 1994, Revista espanola de enfermedades digestivas,
S Kastl, and K Günther, and S Merkel, and W Hohenberger, and W G Ballhausen
August 2004, The journal of obstetrics and gynaecology research,
S Kastl, and K Günther, and S Merkel, and W Hohenberger, and W G Ballhausen
January 2004, Disease markers,
S Kastl, and K Günther, and S Merkel, and W Hohenberger, and W G Ballhausen
December 1994, Nihon rinsho. Japanese journal of clinical medicine,
S Kastl, and K Günther, and S Merkel, and W Hohenberger, and W G Ballhausen
November 1995, Nihon rinsho. Japanese journal of clinical medicine,
S Kastl, and K Günther, and S Merkel, and W Hohenberger, and W G Ballhausen
January 1994, Ryoikibetsu shokogun shirizu,
S Kastl, and K Günther, and S Merkel, and W Hohenberger, and W G Ballhausen
April 2002, Gan to kagaku ryoho. Cancer & chemotherapy,
S Kastl, and K Günther, and S Merkel, and W Hohenberger, and W G Ballhausen
January 2000, Medicina clinica,
S Kastl, and K Günther, and S Merkel, and W Hohenberger, and W G Ballhausen
September 2003, Japanese journal of clinical oncology,
S Kastl, and K Günther, and S Merkel, and W Hohenberger, and W G Ballhausen
April 2001, Magyar sebeszet,
Copied contents to your clipboard!