Prevalence and clinicopathological characteristics of mismatch repair-deficient colorectal carcinoma in early onset cases as compared with late-onset cases: a retrospective cross-sectional study in Northeastern Iran

BMJ Open
Ladan GoshayeshiBenyamin Hoseini

Abstract

Lynch syndrome (LS), a genetically inherited autosomal disorder, increases the incidence of colorectal carcinoma (CRC). We aimed to perform a universal strategy to assess the prevalence and clinicopathological characteristics of early onset CRCs at high risk of LS versus late-onset ones in the Iranian population. A local population-based study from Northeastern Iran. 321 consecutive CRCs and pathology specimen screened between 2013 and 2016. Retrospectively, information regarding the clinical criteria was obtained by interviewing the patients with CRC or, their families. Pathologists tested tumours with immunohistochemistry (IHC) staining of four mismatch repair (MMR) proteins (MLH1, MSH2, MSH6 and PMS2). Tumours with absent IHC staining of MLH1 were tested for BRAF mutations to exclude sporadic CRCs. Prevalence of early onset CRCs at high risk of LS and familial CRC type X were assessed as primary and secondary outcome measures, respectively. Of 321 CRCs (13/123 (10.57%), early onset vs 21/198 (10.6%) late-onset) were detected to be MMR-deficient (dMMR). Nine early onset cases and 14 late-onset ones with a loss of MLH1 underwent testing for the BRAF mutation, none of the early onset and four (2.02%) late-onset were recognised ...Continue Reading

References

May 21, 1998·The New England Journal of Medicine·L A AaltonenA de la Chapelle
Jun 1, 2000·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·R SalovaaraA de la Chapelle
Oct 19, 2001·Gastroenterology·W S SamowitzM L Slattery
Feb 19, 2005·Annals of Oncology : Official Journal of the European Society for Medical Oncology·P Boyle, J Ferlay
May 6, 2005·The New England Journal of Medicine·Heather HampelAlbert de la Chapelle
Sep 7, 2005·BMC Cancer·Mahboobeh MahdaviniaReza Malekzadeh
Jun 30, 2006·The New England Journal of Medicine·Rebecca A BarnetsonMalcolm G Dunlop
Sep 24, 2008·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Heather HampelAlbert de la Chapelle
Dec 17, 2008·International Journal of Cancer. Journal International Du Cancer·Lyn SchofieldBarry Iacopetta
Jan 7, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Glenn E PalomakiStephen N Thibodeau
Jun 10, 2009·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Rebecca L SiegelElizabeth M Ward
Jan 20, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Mercy MvunduraGlenn E Palomaki
Jul 27, 2010·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Ajay GoelC Richard Boland
Oct 7, 2010·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·María Dolores GiráldezSergi Castellví-Bel
Nov 9, 2010·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Paul J LimburgNoralane M Lindor
Oct 18, 2012·JAMA : the Journal of the American Medical Association·Leticia MoreiraUNKNOWN EPICOLON Consortium
Jun 5, 2013·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Robyn L WardNicholas J Hawkins
Nov 5, 2013·The Journal of Molecular Diagnostics : JMD·José PereaMiguel Urioste
Jan 5, 2014·Journal of Experimental & Clinical Cancer Research : CR·Vittoria StiglianoMarcello Anti
Jan 29, 2014·Gastroenterology·John M Carethers
Mar 20, 2014·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Arfaoui Toumi AmiraKourdaa Nadia
Jun 7, 2014·Digestive Diseases and Sciences·Trilokesh D KidambiJonathan P Terdiman
Dec 18, 2014·World Journal of Gastroenterology : WJG·Irene Osorio SillaJosé Perea
Jan 9, 2015·The American Journal of Gastroenterology·Winand N M DinjensAnja Wagner
Jun 25, 2015·Asian Pacific Journal of Cancer Prevention : APJCP·Mehrdad ZeinalianMohammad Hassan Emami
Aug 27, 2015·World Journal of Gastroenterology : WJG·John M Carethers, Elena M Stoffel
Feb 9, 2016·World Journal of Gastroenterology : WJG·Veroushka BallesterLisa Boardman
May 26, 2016·Asian Pacific Journal of Cancer Prevention : APJCP·Masood AlqahtaniBarry Iacopetta
Dec 16, 2016·JAMA Oncology·Rachel PearlmanUNKNOWN Ohio Colorectal Cancer Prevention Initiative Study Group
Mar 1, 2017·Clinical Colorectal Cancer·Robin B MendelsohnMoshe Shike
Mar 2, 2017·CA: a Cancer Journal for Clinicians·Rebecca L SiegelAhmedin Jemal

❮ Previous
Next ❯

Citations

Sep 3, 2020·International Journal of Cancer. Journal International Du Cancer·Hendrik BläkerUNKNOWN German Consortium for Familial Intestinal Cancer
May 10, 2020·Gastroenterology Research and Practice·Bayan MaraqaMaysa Al-Hussaini

❮ Previous
Next ❯

Software Mentioned

SPSS

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.