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Molecular genetics of microsatellite-unstable colorectal cancer for pathologists.

Abstract Microsatellite-unstable colorectal cancers (CRC) that are due to deficient DNA mismatch repair (dMMR) represent approximately 15% of all CRCs in the United States. These microsatellite-unstable CRCs represent a heterogenous group of diseases with distinct oncogenesis pathways. There are overlapping clinicopathologic features between some of these groups, but many important differences are present. Therefore, determination of the etiology for the dMMR is vital for proper patient management and follow-up.
PMID
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Authors

Mayor MeshTerms

Microsatellite Instability

Keywords

Colorectal cancer

Immunohistochemistry

Lynch syndrome

MMR

MSI

Microsatellite instability

Mismatch repair protein

Molecular genetics

Journal Title diagnostic pathology
Publication Year Start




PMID- 28259170
OWN - NLM
STAT- MEDLINE
DA  - 20170305
DCOM- 20170313
LR  - 20170313
IS  - 1746-1596 (Electronic)
IS  - 1746-1596 (Linking)
VI  - 12
IP  - 1
DP  - 2017 Mar 04
TI  - Molecular genetics of microsatellite-unstable colorectal cancer for pathologists.
PG  - 24
LID - 10.1186/s13000-017-0613-8 [doi]
AB  - BACKGROUND: Microsatellite-unstable colorectal cancers (CRC) that are due to
      deficient DNA mismatch repair (dMMR) represent approximately 15% of all CRCs in
      the United States. These microsatellite-unstable CRCs represent a heterogenous
      group of diseases with distinct oncogenesis pathways. There are overlapping
      clinicopathologic features between some of these groups, but many important
      differences are present. Therefore, determination of the etiology for the dMMR is
      vital for proper patient management and follow-up. MAIN BODY: Epigenetic
      inactivation of MLH1 MMR gene (sporadic microsatellite-unstable CRC) and germline
      mutation in an MMR gene (Lynch syndrome, LS) are the two most common mechanisms
      in the pathogenesis of microsatellite instability in CRC. However, in a subset of
      dMMR CRC cases that are identified by screening tests, no known LS-associated
      genetic alterations are appreciated by current genetic analysis. When the
      etiology for dMMR is unclear, it leads to patient anxiety and creates challenges 
      for clinical management. CONCLUSION: It is critical to distinguish LS patients
      from other patients with tumors due to dMMR, so that the proper screening
      protocol can be employed for the patients and their families, with the goal to
      save lives while avoiding unnecessary anxiety and costs. This review summarizes
      the major pathogenesis pathways of dMMR CRCs, their clinicopathologic features,
      and practical screening suggestions. In addition, we include frequently asked
      questions for MMR immunohistochemistry interpretation.
FAU - Chen, Wei
AU  - Chen W
AD  - Department of Pathology, The Ohio State University Wexner Medical Center, S301
      Rhodes Hall, 450 W. 10th Ave, Columbus, Ohio, 43210, USA.
AD  - Department of Pathology, The Ohio State University Wexner Medical Center, 129
      Hamilton Hall, Columbus, Ohio, 43210, USA.
FAU - Swanson, Benjamin J
AU  - Swanson BJ
AD  - Department of Pathology, University of Nebraska Medical Center, 985900 Nebraska
      Medical Center, Omaha, NE, 68198, USA.
FAU - Frankel, Wendy L
AU  - Frankel WL
AD  - Department of Pathology, The Ohio State University Wexner Medical Center, S301
      Rhodes Hall, 450 W. 10th Ave, Columbus, Ohio, 43210, USA.
      [email protected]
AD  - Department of Pathology, The Ohio State University Wexner Medical Center, 129
      Hamilton Hall, Columbus, Ohio, 43210, USA. [email protected]
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20170304
PL  - England
TA  - Diagn Pathol
JT  - Diagnostic pathology
JID - 101251558
SB  - IM
MH  - Colon/pathology
MH  - Colorectal Neoplasms/diagnosis/*genetics
MH  - DNA Mismatch Repair/*genetics
MH  - Humans
MH  - Immunohistochemistry
MH  - *Microsatellite Instability
MH  - Pathologists
MH  - Rectum/pathology
PMC - PMC5336657
OTO - NOTNLM
OT  - Colorectal cancer
OT  - Immunohistochemistry
OT  - Lynch syndrome
OT  - MMR
OT  - MSI
OT  - Microsatellite instability
OT  - Mismatch repair protein
OT  - Molecular genetics
EDAT- 2017/03/06 06:00
MHDA- 2017/03/14 06:00
CRDT- 2017/03/06 06:00
PHST- 2016/09/29 [received]
PHST- 2017/02/20 [accepted]
AID - 10.1186/s13000-017-0613-8 [doi]
AID - 10.1186/s13000-017-0613-8 [pii]
PST - epublish
SO  - Diagn Pathol. 2017 Mar 4;12(1):24. doi: 10.1186/s13000-017-0613-8.

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