Abstract
Current screening practices have been able to identify PMS2 mutations in 78 % of cases of colorectal cancer from the Colorectal Cancer Family Registry (Colon CFR) which showed solitary loss of the PMS2 protein. However the detection of large-scale deletions in the 3′ end of the PMS2 gene has not been possible due to technical difficulties associated with pseudogene sequences. Here, we utilised a recently described MLPA/long-range PCR-based approach to screen the remaining 22 % (n = 16) of CRC-affected probands for mutations in the 3′ end of the PMS2 gene. No deletions encompassing any or all of exons 12 through 15 were identified; therefore, our results suggest that 3′ deletions in PMS2 are not a frequent occurrence in such families.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 563-566 |
| Number of pages | 4 |
| Journal | Familial Cancer |
| Volume | 12 |
| Issue number | 3 |
| DOIs | |
| State | Published - Sep 2013 |
Fingerprint
Keywords
- Colorectal cancer
- Germline testing
- Large deletions
- Lynch syndrome
- PMS2
- Pseudogenes
ASJC Scopus subject areas
- Cancer Research
- Genetics
- Oncology
- Genetics(clinical)
Cite this
Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants : Have we been missing anything? / Clendenning, Mark; Walsh, Michael D.; Gelpi, Judith Balmana; Thibodeau, Stephen N; Lindor, Noralane Morey; Potter, John D.; Newcomb, Polly; Lemarchand, Loic; Haile, Robert; Gallinger, Steve; Hopper, John L.; Jenkins, Mark A.; Rosty, Christophe; Young, Joanne P.; Buchanan, Daniel D.
In: Familial Cancer, Vol. 12, No. 3, 09.2013, p. 563-566.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants
T2 - Have we been missing anything?
AU - Clendenning, Mark
AU - Walsh, Michael D.
AU - Gelpi, Judith Balmana
AU - Thibodeau, Stephen N
AU - Lindor, Noralane Morey
AU - Potter, John D.
AU - Newcomb, Polly
AU - Lemarchand, Loic
AU - Haile, Robert
AU - Gallinger, Steve
AU - Hopper, John L.
AU - Jenkins, Mark A.
AU - Rosty, Christophe
AU - Young, Joanne P.
AU - Buchanan, Daniel D.
PY - 2013/9
Y1 - 2013/9
N2 - Current screening practices have been able to identify PMS2 mutations in 78 % of cases of colorectal cancer from the Colorectal Cancer Family Registry (Colon CFR) which showed solitary loss of the PMS2 protein. However the detection of large-scale deletions in the 3′ end of the PMS2 gene has not been possible due to technical difficulties associated with pseudogene sequences. Here, we utilised a recently described MLPA/long-range PCR-based approach to screen the remaining 22 % (n = 16) of CRC-affected probands for mutations in the 3′ end of the PMS2 gene. No deletions encompassing any or all of exons 12 through 15 were identified; therefore, our results suggest that 3′ deletions in PMS2 are not a frequent occurrence in such families.
AB - Current screening practices have been able to identify PMS2 mutations in 78 % of cases of colorectal cancer from the Colorectal Cancer Family Registry (Colon CFR) which showed solitary loss of the PMS2 protein. However the detection of large-scale deletions in the 3′ end of the PMS2 gene has not been possible due to technical difficulties associated with pseudogene sequences. Here, we utilised a recently described MLPA/long-range PCR-based approach to screen the remaining 22 % (n = 16) of CRC-affected probands for mutations in the 3′ end of the PMS2 gene. No deletions encompassing any or all of exons 12 through 15 were identified; therefore, our results suggest that 3′ deletions in PMS2 are not a frequent occurrence in such families.
KW - Colorectal cancer
KW - Germline testing
KW - Large deletions
KW - Lynch syndrome
KW - PMS2
KW - Pseudogenes
UR - http://www.scopus.com/inward/record.url?scp=84885949060&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84885949060&partnerID=8YFLogxK
U2 - 10.1007/s10689-012-9597-4
DO - 10.1007/s10689-012-9597-4
M3 - Article
C2 - 23288611
AN - SCOPUS:84885949060
VL - 12
SP - 563
EP - 566
JO - Familial Cancer
JF - Familial Cancer
SN - 1389-9600
IS - 3
ER -