Publications:

InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer

Publication Date: 2022-10

Variant appearance in text: MSH2: 1294_1298del; L432Gfs*9

PubMed Link: 36260238

Variant Present in the following documents:

• 10689_2022_Article_312.pdf

View BVdb publication page

Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.

Gynecologic Oncology

Hampel, Heather H; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC; Zhao, Weiqiang W; Jones, Dan D; Yilmaz, Ahmet A; Chen, Wei W; Frankel, Wendy L WL; Suarez, Adrian A AA; Cosgrove, Casey C; Backes, Floor F; Copeland, Larry L; Fowler, Jeffrey J; O'Malley, David D; Salani, Ritu R; McElroy, Joseph P JP; Stanich, Peter P PP; Goodfellow, Paul P; Cohn, David E DE

Publication Date: 2021-01

Variant appearance in text: MSH2: 1294_1298del

PubMed Link: 33393477

Variant Present in the following documents:

• Main text

View BVdb publication page

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

Gastroenterology

Haraldsdottir, Sigurdis S; Hampel, Heather H; Tomsic, Jerneja J; Frankel, Wendy L WL; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC

Publication Date: 2014-12

Variant appearance in text: MSH2: 1294_1298del

PubMed Link: 25194673

Variant Present in the following documents:

• Main text

View BVdb publication page