Inheritance of colorectal cancer

Abstract

Inheritance is involved in up to one third of colon cancer cases. Highly penetrant inherited syndromes account for approximately 3%, while more common, but less penetrant inherited factors play a role in the remainder. Approaches to recognizing each of these categories and syndromes, using genetic testing for diagnosis where indicated, and accomplishing proper cancer screening and surveillance will be outlined in this review.

Runx3 at the interface of immunity, inflammation and cancer

“…Approximately 10% of GC cases have a familial predisposition, half of which can be attributed to germ-line mutations in different TSGs [48] (Table 2). Likewise,~5-7% of breast cancers are familial and are associated with germ-line mutations in TSGs that predispose to breast and/or ovarian cancer development [49] and germ-line mutations in different TSGs were found to predispose to colorectal cancer [50] (Table 2). However, as shown in Table 2, not a single germ-line RUNX3 mutation was detected in GC-prone pedigrees [51], and RUNX3 was also not found to be a cancer-predisposition gene across different cancer types [40].…”

Epidemioclinical Feature of Early-Onset Colorectal Cancer at-Risk for Lynch Syndrome in Central Iran

“…Inheritable genetic factors contribute in incidence of at least 35% of the new cases (Burt, 2007) and hereditary non-polyposis colorectal cancer (HNPCC) is the most common cause of hereditary CRC (Rybak and Hall, 2011). It is an autosomal dominant condition with about 70-90% penetrance due to mutation in the mismatch repair genes (Lynch et al, 2009).…”

The molecular characteristics of colorectal cancer: Implications for diagnosis and therapy (Review)

“…Approximately 65% of CRC cases are sporadic with no family history or apparent genetic predisposition (3). The remaining cases are familial, arising from moderately penetrant inherited susceptibility, possibly interacting with environmental factors (3,4).…”

“…However, hereditary CRC has two well-described forms: Familial adenomatous polyposis (FAP) (<1%) patients inherit a mutated copy of the adenomatous polyposis (APC) gene, whereas hereditary non-polyposis colorectal cancer (HNPPC, or Lynch syndrome) (1-3%) is characterized by MSI, a consequence of a defective DNA mismatch repair (MMR) system (11). The other forms of hereditary CRC include a rare syndrome called hamartomatous polyposis syndrome (<1%) and the common inherited cases caused by less penetrant inherited mutations (32%) (3).…”