Absence of MSH2 exons 2–6 in cDNA despite a A cryptic germ line paracentric inversion normal DNA sequence within MSH2 Germline genetic testing on peripheral blood DNA from the Intron 1 of MSH2 is repeat-rich, consisting of 73% repetitive proband detected no sequence alterations in the entire coding elements that includes AluSz, AluY and AluSc repeats from the region and splice sites of MLH1

MSH2 inversion of exons 1-7 was found in four probands previously suspected to have Lynch syndrome based on family history and tumor testing.

Variant details Conditions NM_000251.2(MSH2):c.1277-?_*(272_?)inv Allele ID 96086 Variant type Inversion Variant length - Cytogenetic location 2p21 Genomic location 2: 47445548-47483221 (GRCh38) GRCh38 UCSC 2: 47672687-47710360 The rtel1 mutant increases heterologous recombination within this inversion, which was suppressed by msh2 (León‐Ortiz et al, 2018), consistent with a pro‐crossover role for MSH2 in this context. In Schizosaccharomyces pombe, msh2 mutants show increased mitotic mutation rate, delayed meiotic progression, defective meiotic chromosome structure and a failure to undergo mating‐type Wagner et al. (2002) identified a paracentric inversion of chromosome 2p that inactivated the MSH2 locus and caused HNPCC. They showed that the centromeric and telomeric breakpoints of the paracentric inversion mapped within intron 7 of the MSH2 gene and to a contig 10 Mb 3-prime of MSH2… Pathogenicity of the paracentric inversion was demonstrated by conversion analysis.

Only carriers of the inversion displayed allelic drop out in the long PCR, and no inversion carriers had amplification of both alleles ( Fig. 2 ). MSH2: Inversion of MSH2 exons 1-7 ("Boland" inversion) is assessed for Lynch Syndrome, Colorectal, Endometrial, and Prostate Cancer Panel testing (for both Focus and Comprehensive Panels) as well as Comprehensive Gastric Cancer Panel testing. Genomic deletions of the MSH2 gene are a frequent cause of hereditary nonpolyposis colorectal cancer (HNPCC), a common hereditary predisposition to the development of tumors in several organs includi An inversion PCR on germline DNA identified an ~18kb unbalanced, paracentric inversion within MSH2, with breakpoints in a long terminal repeat in intron 1 and an Alu repeat in intron 6. The 3' end of the inversion had a 1.2 kb deletion and an 8 bp insertion at the junction with intron 6.

0.5 https://portal.research.lu.se/portal/en/publications/time-domain-inversion- /en/publications/characterization-of-germline-mutations-of-mlh1-and-msh2-in-

Biallelic pathogenic MSH2 variants, or any of the genes associated with Lynch syndrome, (i.e. Conclusion The postulated high frequency and continent-wide geographic distribution of a cancer-predisposing founder mutation of the MSH2 gene in a large, outbred (as opposed to genetically isolated) population, and the ease with which the mutation can be detected, suggest that the routine testing of individuals at risk for HNPCC in the United States should include an assay for this mutation We next performed PCR of the 5′ inversion breakpoint on our remaining suspected MSH2-type Lynch syndrome patients, and six patients were positive for the inversion (Table 1; Fig. 3). We designed additional primers to amplify the 3′ inversion breakpoint using the sequence data provided by Chen [ 7 ].

Absence of MSH2 exons 2–6 in cDNA despite a A cryptic germ line paracentric inversion normal DNA sequence within MSH2 Germline genetic testing on peripheral blood DNA from the Intron 1 of MSH2 is repeat-rich, consisting of 73% repetitive proband detected no sequence alterations in the entire coding elements that includes AluSz, AluY and AluSc repeats from the region and splice sites of MLH1

Identifying the genetic cause of a condition can allow clinicians to accurately manage a patient. Find the right test. Absence of MSH2 exons 2–6 in cDNA despite a A cryptic germ line paracentric inversion normal DNA sequence within MSH2 Germline genetic testing on peripheral blood DNA from the Intron 1 of MSH2 is repeat-rich, consisting of 73% repetitive proband detected no sequence alterations in the entire coding elements that includes AluSz, AluY and AluSc repeats from the region and splice sites of MLH1 Q Q MSH2 inversion 2226 Lynch syndrome QQ MSH6 8512 Lynch syndrome Q Q MUTYH 4661MUTYH-associated polyposis Q Q PMS2 4646 Lynch syndrome Q Q STK11 2766 Peutz-Jeghers syndrome specific site analysis (Please include a copy of relative's report) Boland inversion in MSH2 were omitted [2]. The Boland inversion is accompanied by two breakpoints with a resul-tant inversion of exons 1–7 in the MSH2 gene. The etiology Correspondence: Oliver Sartor, M.D., Tulane Medical School, 1430 Tulane Ave., SL-42, New Orleans, Louisiana 70112, USA. Telephone: 2017-08-25 2016-01-01 Gene Inversion Frequency Comments MSH2 (ENST00000233146) c.-9509220_1277-3164inv (exon 1-7) 1 Boland founder BARD1 (ENST00000260947) c.1904-6533_*4910157inv (exon 10-11) 1 PMS2 (ENST00000265849) c.-89564_23+1221inv (exon 1) 2 Table 1.

2). MSH2 inversion of exons 1–7 was found in four probands previously suspected to have Lynch syndrome based on family history and tumor testing.
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Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population. Fam Cancer. 2014 Jun;13(2):219-25. (PMID: 24114314) Senter L et al.

(germline)*. Aug 28, 2017 for 11 months, it failed to test for the MSH2 Boland Inversion to our analysis of a rare genetic variant in the MSH2 gene associated with 15&16 covered by Sanger sequencing.
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för det andra baserat på huruvida de involverade en deletion, inversion eller introduktion av en MSH2- mutation i markerade förbättringar i immunsvar 102

In 2014, a recurrent inversion of MSH2 exons 1–7 was identified in five families suspected to have Lynch syndrome. We aimed to describe our clinical experience in identifying families with this specific inversion. The MSH2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 423615) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

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MSH2 variants classified by the InSiGHT consortium: criteria used for classification are available here.We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.

Results To date, 566 family members of the 9 probands have been identified to be at risk and counseled; 137 of these have been tested, and 61 carry the founder mutation. Some physicians, genetic counselors, and other clinicians will consider Invitae’s omission of the MSH2 Boland inversion mutation to be minor—a hiccup in a field that advances through trial and error.