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

  • Cini, GiuliaCtr Riferimento Oncol Aviano CRO IRCCS, Unit Funct Oncogen & Genet, Via F Gallini 2, I-33081 Aviano, Italy. (författare)

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

  • Artikel/kapitelEngelska2021

Förlag, utgivningsår, omfång ...

  • Elsevier BV,2021
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:kth-295454
  • urn:nbn:se:kth:diva-295454urn
  • https://doi.org/10.1016/j.cancergen.2021.01.005DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • QC 20210528
  • 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 och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Carnevali, IleanaCircolo 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. (författare)
  • Sahnane, NoraCircolo 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. (författare)
  • Chiaravalli, Anna MariaCircolo 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. (författare)
  • Dell'Elice, AnastasiaCtr Riferimento Oncol Aviano CRO IRCCS, Unit Funct Oncogen & Genet, Via F Gallini 2, I-33081 Aviano, Italy. (författare)
  • Maestro, RobertaCtr Riferimento Oncol Aviano CRO IRCCS, Unit Funct Oncogen & Genet, Via F Gallini 2, I-33081 Aviano, Italy. (författare)
  • Pin, ElisaKTH,Affinitets-proteomik,Science for Life Laboratory, SciLifeLab(Swepub:kth)u1pmjyje (författare)
  • Bestetti, IlariaIRCCS 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. (författare)
  • Radovic, SlobodankaIGA Technol Serv Srl, Via J Linussio 51, I-33100 Udine, Italy. (författare)
  • Armelao, FrancoAPSS, Osped S Chiara, UO Gastroenterol & Endoscopia Digest, Via A de Gasperi 79, I-38123 Trento, Italy. (författare)
  • Viel, AlessandraCtr Riferimento Oncol Aviano CRO IRCCS, Unit Funct Oncogen & Genet, Via F Gallini 2, I-33081 Aviano, Italy. (författare)
  • Tibiletti, Maria GraziaCircolo 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. (författare)
  • 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)

Sammanhörande titlar

  • Ingår i:Cancer Genetics: Elsevier BV254, s. 1-102210-77622210-7770

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