Publications:

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Significance of rare variants in genes involved in the pathogenesis of Lynch syndrome.

International Journal Of Molecular Medicine

Liccardo, Raffaella R; Lambiase, Matilde M; Nolano, Antonio A; De Rosa, Marina M; Izzo, Paola P; Duraturo, Francesca F

Publication Date: 2022-06

Variant appearance in text: MSH6: 3311_3312del

PubMed Link: 35475445

Variant Present in the following documents:

• ijmm-49-06-05137.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MSH6: 3311_3312delTT; Phe1104Trpfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Interval between the First Cancer and the Genetic Diagnosis in Lynch Syndrome Probands.

Internal Medicine (Tokyo, Japan)

Yamashita, Kentaro K; Fukushima, Hisayo H; Teramoto, Mizue M; Okita, Kenji K; Ishikawa, Aki A; Sakurai, Akihiro A; Akagi, Kiwamu K; Nakase, Hiroshi H

Publication Date: 2021-09-01

Variant appearance in text: MSH6: 3311_3312delTT

PubMed Link: 33746161

Variant Present in the following documents:

• Main text
• 1349-7235-60-2719.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MSH6: 3311_3312delTT; Phe1104Trpfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

European Journal Of Human Genetics : Ejhg

Jansen, Anne Ml AM; van Wezel, Tom T; van den Akker, Brendy Ewm BE; Ventayol Garcia, Marina M; Ruano, Dina D; Tops, Carli Mj CM; Wagner, Anja A; Letteboer, Tom Gw TG; Gómez-García, Encarna B EB; Devilee, Peter P; Wijnen, Juul T JT; Hes, Frederik J FJ; Morreau, Hans H

Publication Date: 2016-07

Variant appearance in text: MSH6: 3311_3312delTT

PubMed Link: 26648449

Variant Present in the following documents:

• Main text
• ejhg2015252a.pdf

View BVdb publication page

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Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer.

Cancer Epidemiology

Akbari, Mohammad R MR; Anderson, Laura N LN; Buchanan, Daniel D DD; Clendenning, Mark M; Jenkins, Mark A MA; Win, Aung Ko AK; Hopper, John L JL; Giles, Graham G GG; Nam, Robert R; Narod, Steven S; Gallinger, Steven S; Cleary, Sean P SP

Publication Date: 2013-08

Variant appearance in text: MSH6: 3311_3312delTT; Phe1104TrpfsX3

PubMed Link: 23541221

Variant Present in the following documents:

• Main text

View BVdb publication page

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