A 30-Year-Old Man with Three Primary Malignancies : A Case of Constitutional Mismatch Repair Deficiency
Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which clinical manifestations, genetic screening, and cancer prevention strategies are limited. We report a case of CMMRD presenting with metachronous colorectal cancer and brain cancer. Oncologists and gastroenterologists should be aware of the CMMRD syndrome as a rare cause of very early-onset colorectal cancer.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2017 |
|---|---|
| Erschienen: |
2017 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:4 |
|---|---|
| Enthalten in: |
ACG case reports journal - 4(2017) vom: 31., Seite e34 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Rengifo-Cam, William [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
|---|
| Anmerkungen: |
Date Revised 29.09.2020 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
|---|
| doi: |
10.14309/crj.2017.34 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM269774807 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM269774807 | ||
| 003 | DE-627 | ||
| 005 | 20231224225221.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231224s2017 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.14309/crj.2017.34 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n0899.xml |
| 035 | |a (DE-627)NLM269774807 | ||
| 035 | |a (NLM)28286799 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Rengifo-Cam, William |e verfasserin |4 aut | |
| 245 | 1 | 2 | |a A 30-Year-Old Man with Three Primary Malignancies |b A Case of Constitutional Mismatch Repair Deficiency |
| 264 | 1 | |c 2017 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Revised 29.09.2020 | ||
| 500 | |a published: Electronic-eCollection | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which clinical manifestations, genetic screening, and cancer prevention strategies are limited. We report a case of CMMRD presenting with metachronous colorectal cancer and brain cancer. Oncologists and gastroenterologists should be aware of the CMMRD syndrome as a rare cause of very early-onset colorectal cancer | ||
| 650 | 4 | |a Case Reports | |
| 700 | 1 | |a Jasperson, Kory |e verfasserin |4 aut | |
| 700 | 1 | |a Garrido-Laguna, Ignacio |e verfasserin |4 aut | |
| 700 | 1 | |a Colman, Howard |e verfasserin |4 aut | |
| 700 | 1 | |a Scaife, Courtney |e verfasserin |4 aut | |
| 700 | 1 | |a Samowitz, Wade |e verfasserin |4 aut | |
| 700 | 1 | |a Samadder, N Jewel |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t ACG case reports journal |d 2013 |g 4(2017) vom: 31., Seite e34 |w (DE-627)NLM245263268 |x 2326-3253 |7 nnns |
| 773 | 1 | 8 | |g volume:4 |g year:2017 |g day:31 |g pages:e34 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.14309/crj.2017.34 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 4 |j 2017 |b 31 |h e34 | ||