Colorectal cancer (CRC) remains a leading cancer- associated cause of global mortality, with a poor prognosis and low patient survival rates. Studies demonstrate approximately 6 to 10% of CRCs carry an underlying inherited germline pathogenic variant in a cancer predisposition gene associated with an hereditary CRC syndrome. Hereditary CRC syndromes include. Lynch Syndrome (LS), Familial Adenomatous Polyposis (FAP) and Hamartomatous Polyposis, among others., Hereditary CRC syndromes are associated with early age of onset of disease and very high risks of cancer.
LS and FAP are two of the most prevalent hereditary CRC syndromes. . Patients with LS demonstrate an increased lifetime risks of colorectal, endometrial , stomach , ovarian small intestine, brain , ureteral and renal cancers.. Defective mismatch repair (MMR) causes LS, due to germline pathogenic variants in one of the MMR genes, MLH1, MSH2, MSH6, PMS2, or to deletions of the 3' portion of the EPCAM gene. One in 279 in the general population carry germline pathogenic variants in a MMR gene. The other major hereditary CRC syndrome is FAP. FAP and attenuated subtypes of FAP are caused by germline pathogenic variants in the tumor suppressor gene, Adenomatous Polyposis Coli (APC), located on chromosome 5q21-q22. FAP is inherited in an autosomal dominant fashion with nearly complete penetrance.
The aim of this Research Topic is to generate discussion of the diagnosis, evaluation, and management of patients having an hereditary CRC syndrome in the era of Precision Medicine. This Research Topic seeks studies describing novel approaches to diagnosis, risk assessment, surveillance, risk reduction, chemoprevention, and health disparities. We welcome Original Articles, Review Articles and Systematic Reviews.
Please note: manuscripts consisting solely of bioinformatics or computational analysis of public genomic or transcriptomic databases which are not accompanied by validation (independent cohort or biological validation in vitro or in vivo) are out of scope for this section and will not be accepted as part of this Research Topic.
Colorectal cancer (CRC) remains a leading cancer- associated cause of global mortality, with a poor prognosis and low patient survival rates. Studies demonstrate approximately 6 to 10% of CRCs carry an underlying inherited germline pathogenic variant in a cancer predisposition gene associated with an hereditary CRC syndrome. Hereditary CRC syndromes include. Lynch Syndrome (LS), Familial Adenomatous Polyposis (FAP) and Hamartomatous Polyposis, among others., Hereditary CRC syndromes are associated with early age of onset of disease and very high risks of cancer.
LS and FAP are two of the most prevalent hereditary CRC syndromes. . Patients with LS demonstrate an increased lifetime risks of colorectal, endometrial , stomach , ovarian small intestine, brain , ureteral and renal cancers.. Defective mismatch repair (MMR) causes LS, due to germline pathogenic variants in one of the MMR genes, MLH1, MSH2, MSH6, PMS2, or to deletions of the 3' portion of the EPCAM gene. One in 279 in the general population carry germline pathogenic variants in a MMR gene. The other major hereditary CRC syndrome is FAP. FAP and attenuated subtypes of FAP are caused by germline pathogenic variants in the tumor suppressor gene, Adenomatous Polyposis Coli (APC), located on chromosome 5q21-q22. FAP is inherited in an autosomal dominant fashion with nearly complete penetrance.
The aim of this Research Topic is to generate discussion of the diagnosis, evaluation, and management of patients having an hereditary CRC syndrome in the era of Precision Medicine. This Research Topic seeks studies describing novel approaches to diagnosis, risk assessment, surveillance, risk reduction, chemoprevention, and health disparities. We welcome Original Articles, Review Articles and Systematic Reviews.
Please note: manuscripts consisting solely of bioinformatics or computational analysis of public genomic or transcriptomic databases which are not accompanied by validation (independent cohort or biological validation in vitro or in vivo) are out of scope for this section and will not be accepted as part of this Research Topic.