Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management

  title={Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management},
  author={Henry T. Lynch and Jane F. Lynch and Patrick M Lynch and Thomas Attard},
  journal={Familial Cancer},
Hereditary forms of colorectal cancer, as is the case with virtually all forms of hereditary cancer, show extensive phenotypic and genotypic heterogeneity, a phenomenon discussed throughout this special issue of Familial Cancer. Clearly, the family physician, oncology specialist, genetic counselor, and cancer geneticist must know fully the complexity of hereditary cancer syndromes, their differential diagnosis, in order to establish a diagnosis, direct highly-targeted surveillance and… 
Hereditary ovarian carcinoma: Heterogeneity, molecular genetics, pathology, and management
ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes
Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers.
Diagnosing hereditary colorectal cancer.
Identification of individuals with a hereditary predisposition to developing CRC is especially important and provides the opportunity to reduce disease burden in this high-risk population.
Unifying cancer genetics
  • S. Plon
  • Biology, Medicine
    Genetics in Medicine
  • 2011
How medical geneticists are beginning to incorporate cancer genome data into clinical practice is described, which will need to consider both the constitutional and cancer genome when making clinical decisions.
Molecular diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome)
Different approaches proposed by several researchers on molecular algorithms to improve the efficiency of Lynch syndrome diagnosis are presented.
Psychological Impact of Genetic Counseling and Testing for Hereditary Colorectal Cancers
Genetic testing enables health care providers to identify individuals who carry mutations and thus have a risk for developing colorectal cancer and other tumors that substantially exceeds the general population risk for this disease.
Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes
The identification of mutations in ovarian cancer susceptibility genes in healthy women may result in a more personalized cancer risk management with tailored clinical and radiological surveillance, chemopreventive approaches, and/or prophylactic surgeries.
Hereditary Breast Cancer and Hereditary Non-Polyposis Colorectal Cancer: Description of Two Families, as the Examples of Classical Hereditary Predisposition to Cancers
It was stated that an effective prevention dedicated to patients at high, hereditary risk of cancer could be achieved by early diagnosis and thus by highly targeted surveillance and managements.
Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition
Multigene panel testing is a more effective method to identify germline variants in cancer patients compared to single-gene approaches and should be therefore included in clinical laboratories.


Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications
This review covers the cardinal features of Lynch syndrome with particular emphasis upon its diagnostic criteria, molecular genetics, natural history, genetic counseling, surveillance and management, and the etiologic role of mismatch repair (MMR) genes as well as low penetrance alleles and modifier genes.
Prediction of germline mutations and cancer risk in the Lynch syndrome.
MMRpro is a broadly applicable, accurate prediction model that can contribute to current screening and genetic counseling practices in a high-risk population.
Pathology of the hereditary colorectal carcinoma
The role of pathologist is to recognize characteristic clinical presentation and histopathologic features of polyps and initiate appropriate follow up with clinicians and genetic counselors.
Genetic susceptibility to non-polyposis colorectal cancer
The extant genetic and phenotypic heterogeneity in CRC leads to the conclusion that it is no longer appropriate to discuss the genetics of CRC without defining the specific hereditary CRC syndrome of concern, and a detailed differential diagnosis of the several hereditary CRC variants is provided.
The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch Syndrome: from bench to bedside
An understanding of the role of the DNA MMR system in regulation of the cell cycle and the response to DNA damage helps illuminate the differences in natural history and response to chemotherapeutic agents seen in Lynch syndrome.
Screening for the Lynch syndrome.
  • S. Ramsey
  • Medicine
    The New England journal of medicine
  • 2005
A universal screening program for the detection of microsatellite instability in patients with colorectal cancer is feasible and probably desirable, however, it will not be inexpensive, and the cost-effectiveness depends heavily on the ability to locate and test relatives.
Familial cancer in an oncology clinic
Its universal extension in clinical practice is advocated because of the potential yield from meticulous surveillance for cancer of highly targeted organs in such high‐risk kindreds, as well as the economy and general ease of obtaining detailed family history by registered nurses.
A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States.
The postulated high frequency and continent-wide geographic distribution of a cancer-predisposing founder mutation of the MSH2 gene in a large, outbred population, and the ease with which the mutation can be detected, suggest that the routine testing of individuals at risk for HNPCC in the United States should include an assay for this mutation until more is learned about its occurrence.
Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review.
Current recommendations regarding cancer screening and prevention require careful consultation between clinicians, clinical cancer genetic services, and well-informed patients.
Unusual tumors associated with the hereditary nonpolyposis colorectal cancer syndrome
Two young patients, each with a known MSH2 mutation in the family, who developed rare tumors that are not usually associated with HNPCC are reported, suggesting that microsatellite instability analysis using the National Cancer Institute panel of five micros satellite markers may not detect micros Satellite instability in tumors that fall outside the usual tumor spectrum of this syndrome.