Publications:

---

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg

McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER

Publication Date: 2022-03

Variant appearance in text: MSH6: 1784delT; Leu595fs

PubMed Link: 34983940

Variant Present in the following documents:

• 41431_2021_1013_MOESM1_ESM.pdf

View BVdb publication page

---

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg

van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG

Publication Date: 2022-02

Variant appearance in text: MSH6: 1784del; Leu595fs

PubMed Link: 34697415

Variant Present in the following documents:

• 41431_2021_964_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg

van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG

Publication Date: 2021-10-25

Variant appearance in text: MSH6: 1784del; Leu595fs

PubMed Link: 34697415

Variant Present in the following documents:

• 41431_2021_964_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 1784delT; Leu595Tyrfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

---

Primary care providers' responses to unsolicited Lynch syndrome secondary findings of varying clinical significance.

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

Galbraith, Lauren N LN; Preys, Charlene L CL; Rehm, Heidi L HL; Scheuner, Maren T MT; Hajek, Catherine C; Green, Robert C RC; Christensen, Kurt D KD

Publication Date: 2021-10

Variant appearance in text: MSH6: 1784delT

PubMed Link: 34113000

Variant Present in the following documents:

• Main text
• nihms-1717835.pdf

View BVdb publication page

---

Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.

Journal Of The National Cancer Institute

Post, Cathalijne C B CCB; Stelloo, Ellen E; Smit, Vincent T H B M VTHBM; Ruano, Dina D; Tops, Carli M CM; Vermij, Lisa L; Rutten, Tessa A TA; Jürgenliemk-Schulz, Ina M IM; Lutgens, Ludy C H W LCHW; Jobsen, Jan J JJ; Nout, Remi A RA; Crosbie, Emma J EJ; Powell, Melanie E ME; Mileshkin, Linda L; Leary, Alexandra A; Bessette, Paul P; Putter, Hein H; de Boer, Stephanie M SM; Horeweg, Nanda N; Nielsen, Maartje M; Wezel, Tom van TV; Bosse, Tjalling T; Creutzberg, Carien L CL

Publication Date: 2021-09-04

Variant appearance in text: MSH6: 1784delT; Leu595Tyrfs*15

PubMed Link: 33693762

Variant Present in the following documents:

• Main text
• djab029.pdf

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: MSH6: L595Yfs*15

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.

International Journal Of Cancer

Vos, Janet R JR; Fakkert, Ingrid E IE; Spruijt, Liesbeth L; Willems, Riki W RW; Langenveld, Sera S; Mensenkamp, Arjen R AR; Leter, Edward M EM; Nagtegaal, Iris D ID; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; ,

Publication Date: 2020-10-15

Variant appearance in text: MSH6: 1784del; Leu595fs

PubMed Link: 32510614

Variant Present in the following documents:

• IJC-147-2150-s001.pdf

View BVdb publication page

---

Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.

British Journal Of Cancer

You, J-F JF; Buhard, O O; Ligtenberg, M J L MJ; Kets, C M CM; Niessen, R C RC; Hofstra, R M W RM; Wagner, A A; Dinjens, W N M WN; Colas, C C; Lascols, O O; Collura, A A; Flejou, J-F JF; Duval, A A; Hamelin, R R

Publication Date: 2010-12-07

Variant appearance in text: MSH6: 1784del; Leu595TyrfsX15

PubMed Link: 21081928

Variant Present in the following documents:

• Main text
• 6605988a.pdf

View BVdb publication page

---

Risks of Lynch syndrome cancers for MSH6 mutation carriers.

Journal Of The National Cancer Institute

Baglietto, Laura L; Lindor, Noralane M NM; Dowty, James G JG; White, Darren M DM; Wagner, Anja A; Gomez Garcia, Encarna B EB; Vriends, Annette H J T AH; , ; Cartwright, Nicola R NR; Barnetson, Rebecca A RA; Farrington, Susan M SM; Tenesa, Albert A; Hampel, Heather H; Buchanan, Daniel D; Arnold, Sven S; Young, Joanne J; Walsh, Michael D MD; Jass, Jeremy J; Macrae, Finlay F; Antill, Yoland Y; Winship, Ingrid M IM; Giles, Graham G GG; Goldblatt, Jack J; Parry, Susan S; Suthers, Graeme G; Leggett, Barbara B; Butz, Malinda M; Aronson, Melyssa M; Poynter, Jenny N JN; Baron, John A JA; Le Marchand, Loic L; Haile, Robert R; Gallinger, Steve S; Hopper, John L JL; Potter, John J; de la Chapelle, Albert A; Vasen, Hans F HF; Dunlop, Malcolm G MG; Thibodeau, Stephen N SN; Jenkins, Mark A MA

Publication Date: 2010-02-03

Variant appearance in text: MSH6: 1784delT

PubMed Link: 20028993

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

British Journal Of Cancer

Overbeek, L I H LI; Kets, C M CM; Hebeda, K M KM; Bodmer, D D; van der Looij, E E; Willems, R R; Goossens, M M; Arts, N N; Brunner, H G HG; van Krieken, J H J M JH; Hoogerbrugge, N N; Ligtenberg, M J L MJ

Publication Date: 2007-05-21

Variant appearance in text: MSH6: 1784del; Leu595fs

PubMed Link: 17453009

Variant Present in the following documents:

• Main text
• 6603754a.pdf

View BVdb publication page

---