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Sökning: onr:"swepub:oai:DiVA.org:kth-295454" > Lynch syndrome and ...

Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3 ' UTR of the MSH6 gene

Cini, Giulia (författare)
Ctr Riferimento Oncol Aviano CRO IRCCS, Unit Funct Oncogen & Genet, Via F Gallini 2, I-33081 Aviano, Italy.
Carnevali, Ileana (författare)
Circolo Hosp ASST Settelaghi, Dept Pathol, Via O Rossi 9, I-21100 Varese, Italy.;Univ Insubria, Dept Med & Surg, Res Ctr Study Hereditary & Familial Tumors, Via O Rossi 9, I-21100 Varese, Italy.
Sahnane, Nora (författare)
Circolo Hosp ASST Settelaghi, Dept Pathol, Via O Rossi 9, I-21100 Varese, Italy.;Univ Insubria, Dept Med & Surg, Res Ctr Study Hereditary & Familial Tumors, Via O Rossi 9, I-21100 Varese, Italy.
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Chiaravalli, Anna Maria (författare)
Circolo Hosp ASST Settelaghi, Dept Pathol, Via O Rossi 9, I-21100 Varese, Italy.;Univ Insubria, Dept Med & Surg, Res Ctr Study Hereditary & Familial Tumors, Via O Rossi 9, I-21100 Varese, Italy.
Dell'Elice, Anastasia (författare)
Ctr Riferimento Oncol Aviano CRO IRCCS, Unit Funct Oncogen & Genet, Via F Gallini 2, I-33081 Aviano, Italy.
Maestro, Roberta (författare)
Ctr Riferimento Oncol Aviano CRO IRCCS, Unit Funct Oncogen & Genet, Via F Gallini 2, I-33081 Aviano, Italy.
Pin, Elisa (författare)
KTH,Affinitets-proteomik,Science for Life Laboratory, SciLifeLab
Bestetti, Ilaria (författare)
IRCCS Ist Auxol Italiano, Res Lab Med Cytogenet & Mol Genet, Via Zucchi 18, I-20095 Cusano Milanino, MI, Italy.;Univ Milan, Dept Med Biotechnol & Translat Med, Via Vanvitelli 32, I-20133 Milan, Italy.
Radovic, Slobodanka (författare)
IGA Technol Serv Srl, Via J Linussio 51, I-33100 Udine, Italy.
Armelao, Franco (författare)
APSS, Osped S Chiara, UO Gastroenterol & Endoscopia Digest, Via A de Gasperi 79, I-38123 Trento, Italy.
Viel, Alessandra (författare)
Ctr Riferimento Oncol Aviano CRO IRCCS, Unit Funct Oncogen & Genet, Via F Gallini 2, I-33081 Aviano, Italy.
Tibiletti, Maria Grazia (författare)
Circolo Hosp ASST Settelaghi, Dept Pathol, Via O Rossi 9, I-21100 Varese, Italy.;Univ Insubria, Dept Med & Surg, Res Ctr Study Hereditary & Familial Tumors, Via O Rossi 9, I-21100 Varese, Italy.
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Ctr Riferimento Oncol Aviano CRO IRCCS, Unit Funct Oncogen & Genet, Via F Gallini 2, I-33081 Aviano, Italy Circolo Hosp ASST Settelaghi, Dept Pathol, Via O Rossi 9, I-21100 Varese, Italy.;Univ Insubria, Dept Med & Surg, Res Ctr Study Hereditary & Familial Tumors, Via O Rossi 9, I-21100 Varese, Italy. (creator_code:org_t)
Elsevier BV, 2021
2021
Engelska.
Ingår i: Cancer Genetics. - : Elsevier BV. - 2210-7762 .- 2210-7770. ; 254, s. 1-10
Relaterad länk:
https://urn.kb.se/re...
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https://doi.org/10.1...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • A MSH6 3'UTR variant (c.*23_26dup) was found in 13 unrelated families consulted for Lynch/Muir-Torre Syndrome. This variant, which is very rare in the genomic databases, was absent in healthy controls and strongly segregated with the disease in the studied pedigrees. All tumors were defective for MSH2/MSH6/MSH3 proteins expression, but only MSH2 somatic pathogenic mutations were found in 5 of the 12 sequenced tumors. Moreover, we had no evidence of MSH6 transcript decrease in carriers, whereas MSH2 transcript was downregulated. Additional evaluations performed in representative carriers, including karyotype, arrayCGH and Linked-Reads whole genome sequencing, failed to evidence any MSH2 germline pathogenic variant. Posterior probability of pathogenicity for MSH6 c.*23_26dup was obtained from a multifactorial analysis incorporating segregation and phenotypic data and resulted >0.999, allowing to classify the variant as pathogenic (InSiGHT Class 5). Carriers shared a common haplotype involving MSH2/MSH6 loci, then a cryptic disease-associated variant, linked with MSH6 c.*23_26dup, cannot be completely excluded. Even if it is not clear whether the MSH6 variant is pathogenic per se or simply a marker of a disease-associated MSH2/MSH6 haplotype, all data collected on patients and pedigrees prompted us to manage the variant as pathogenic and to offer predictive testing within these families.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

Nyckelord

Lynch syndrome
Muir-Torre syndrome
MSH6
MSH2
Predictive testing

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