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Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

Cederquist, Kristina, (författare)
Umeå universitet, Medicinsk och klinisk genetik
Emanuelsson, Monica, (författare)
Umeå universitet, Onkologi
Wiklund, Fredrik, (författare)
Umeå universitet, Onkologi
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Golovleva, Irina, (författare)
Umeå universitet, Medicinsk och klinisk genetik
Palmqvist, Richard, (författare)
Umeå universitet, Patologi
Grönberg, Henrik, (författare)
Umeå universitet, Onkologi
Gronberg, H, (författare)
Karolinska Institutet
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Umeå universitet Medicinska fakulteten. Institutionen för medicinsk biovetenskap. Medicinsk och klinisk genetik. (creator_code:org_t)
Umeå universitet Medicinska fakulteten. Institutionen för strålningsvetenskaper. Onkologi. (creator_code:org_t)
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Umeå universitet Medicinska fakulteten. Institutionen för medicinsk biovetenskap. Patologi. (creator_code:org_t)
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2005
Engelska.
Ingår i: Clinical Genetics. - 0009-9163. ; 68:6, s. 533-541
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Lynch syndrome, or hereditary non-polyposis colorectal cancer (HNPCC), is a cancer susceptibility syndrome caused by germline mutations in mismatch-repair genes, predominantly MLH1, MSH2 and MSH6. A majority of the mutations reported are truncating, but for MSH6, missense mutations constitute over one third. Few have been proven pathogenic in functional studies or shown to segregate in families. In this study, we show segregation of the putative pathogenic MSH6 missense mutation c.1346T>C p.Leu449Pro with microsatellite instability-high Lynch syndrome-related tumours lacking MSH6 expression in a large 17th century pedigree. Another large family with the MSH6 nonsense c.2931C>G, p.Tyr977X mutation is similar in tumour spectra, age of onset and cumulative risk. These MSH6 families, despite their late age of onset, have a high lifetime risk of all Lynch syndrome-related cancers, significantly higher in women (89% by age 80) than in men (69%). The gender differences are in part explained by high endometrial (70%) and ovarian (33%) cancer risks added upon the high colorectal cancer risk (60%). The several occurrences of breast cancer are not due to the MSH6 mutations. These findings are of great importance for counselling, management and surveillance of families with MSH6 mutations.

Nyckelord

Colorectal neoplasms
founder effect
hereditary non-polyposis
MSH6
missense mutation
nonsense mutation
risk assessment

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