Five markers have been recommended by the National Cancer Institute to screen for MSI in
HNPCC tumors (often called Bethesda markers).
It is known that MSI, as a genetic finding, is an alternative pathway in the development of cancer after the detection of
HNPCC and sporadic colorectal cancers (47).
This paper provides a comprehensive literature review on the most common
HNPCC and HNPCC-associated cancer syndromes (including Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X) that present distinguishing molecular phenotypes, histopathologic features, and clinical presentations among different subtypes (Figure 1).
proposed the inclusion of malignant fibrous histiocytoma (MFH) in the tumor spectrum of
HNPCC [7].
Because of the genomic instability is the initial factor in hereditary cancers, many researchers focused on the role of MLH1 polymorphisms in Lynch Syndrome (LS) and/or Hereditary Nonpolyposis Colorectal Cancer (
HNPCC) susceptibility.
Pathologic features of endometrial carcinoma associated with
HNPCC: a comparison with sporadic endometrial carcinoma.
HNPCC is caused by a germ line mutation of one of the four MMR genes, MSH2, MLH1, MSH6, and PMS2, that leads to Microsatellites Instability (MSI) [37].
Tops et al., "The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in
HNPCC, (A)FAP and MAP," Clinical Genetics, vol.
Hereditary CRC has two forms, familial adenomatous polyposis (FAP) due to germline mutation in the gene APC (Soravia et al., 1998; Pedemonte et al., 1998; Sieber et al., 2002) and hereditiary nonpolyposis colorectal cancer (
HNPCC), also called Lynch syndrome due to germline mutation in the DNA MMR genes (Nicolaides et al., 1994; Miyaki et al., 1997).
A classic example of the MSI etiology is Hereditary Nonpolyposis Colorectal Cancer (
HNPCC), in which inherited mutations in the MMR system significantly increase the risk of developing CRC [96].
In addition, a rare condition called hereditary non-polyposis colorectal cancer (
HNPCC), which runs in families, can slightly increase the risk of developing ovarian cancer (as well as bowel, stomach, colon, pancreatic, biliary and bladder cancer), plus obesity, HRT, smoking, and a history of endometriosis and long menstruation (starting your periods before the age of 12, or going through menopause later than 55 and not having children) have also been linked with possible increased risk.
In addition, a rare condition called hereditary non-polyposis colorectal cancer (
HNPCC), which runs in families, can slightly increase the risk of developing ovarian cancer (as well as bowel, stomach, colon, pancreatic, biliary and bladder cancer), plus obesity, HRT, smoking, and a history of endometriosis and long menstruation (which could result from starting your periods before the age of 12, going through menopause later than 55 and not having children) have also been linked with possible increased risk.