Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?

被引：12

作者：

Clendenning, Mark ^{[1
]}

Walsh, Michael D. ^{[1
]}

Gelpi, Judith Balmana ^{[2
]}

Thibodeau, Stephen N. ^{[3
]}

Lindor, Noralane ^{[4
]}

Potter, John D. ^{[5
,6
]}

Newcomb, Polly ^{[5
]}

LeMarchand, Loic ^{[7
]}

Haile, Robert ^{[8
]}

Gallinger, Steve ^{[9
]}

Hopper, John L. ^{[10
]}

Jenkins, Mark A. ^{[10
]}

Rosty, Christophe ^{[1
,11
]}

Young, Joanne P. ^{[1
]}

Buchanan, Daniel D. ^{[1
]}

机构：

[1] Queensland Inst Med Res, Herston, Qld 4006, Australia

[2] Hosp Valle De Hebron, Dept Med Oncol, Canc Prevent Unit, Barcelona, Spain

[3] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[4] Mayo Clin Arizona, Dept Hlth Sci Res, Scottsdale, AZ USA

[5] Fred Hutchinson Canc Res Ctr, Canc Prevent Program, Seattle, WA 98104 USA

[6] Massey Univ, Ctr Publ Hlth Res, Wellington, New Zealand

[7] Univ Hawaii Manoa, Canc Res Ctr Hawaii, Honolulu, HI 96822 USA

[8] Univ So Calif, Keck Sch Med, Los Angeles, CA 90033 USA

[9] Canc Care Ontario, Toronto, ON, Canada

[10] Univ Melbourne, Melbourne Sch Populat Hlth, Ctr Mol Environm Genet & Analyt Epidemiol, Parkville, Vic 3052, Australia

[11] Univ Queensland, Sch Med, Herston, Qld, Australia

来源：

FAMILIAL CANCER | 2013年 / 12卷 / 03期

基金：

美国国家卫生研究院;

关键词：

Lynch syndrome; PMS2; Germline testing; Large deletions; Pseudogenes; Colorectal cancer; MUTATION DETECTION; LYNCH-SYNDROME; CANCER; QUANTIFICATION; AVOIDANCE;

D O I：

10.1007/s10689-012-9597-4

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 [肿瘤学];

摘要：

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.

引用

页码：563 / 566

页数：4

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