Inherited mutations in DNA mismatch repair genes predispose to different cancer syndromes depending on whether they are mono-allelic or bi-allelic. This supports a causal relationship between expression level in the germline and phenotype variation. As a model to study this relationship, our study aimed to define the pathogenic characteristics of a recurrent homozygous coding variant in PMS2 displaying an attenuated phenotype identified by clinical genetic testing in seven Inuit families from Northern Quebec.
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype / Li, Lili; Hamel, Nancy; Baker, Kristi; Mcguffin, Michael J; Couillard, Martin; Gologan, Adrian; Marcus, Victoria A; Chodirker, Bernard; Chudley, Albert; Stefanovici, Camelia; Durandy, Anne; Hegele, Robert A; Feng, Bing Jian; Goldgar, David E; Zhu, Jun; DE ROSA, Marina; Gruber, Stephen B; Wimmer, Katharina; Young, Barbara; Chong, George; Tischkowitz, Marc D; Foulkes, William D.. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - 52:5(2015), pp. 348-52-352. [10.1136/jmedgenet-2014-102934]
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype
ZHU, jun;DE ROSA, MARINA;
2015
Abstract
Inherited mutations in DNA mismatch repair genes predispose to different cancer syndromes depending on whether they are mono-allelic or bi-allelic. This supports a causal relationship between expression level in the germline and phenotype variation. As a model to study this relationship, our study aimed to define the pathogenic characteristics of a recurrent homozygous coding variant in PMS2 displaying an attenuated phenotype identified by clinical genetic testing in seven Inuit families from Northern Quebec.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.