MLH1 c.306G>A ;(p.E102=)

Variant ID: 3-37042544-G-A

NM_000249.3(MLH1):c.306G>A;(p.E102=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Naproxen chemoprevention promotes immune activation in Lynch syndrome colorectal mucosa.

Gut
Reyes-Uribe, Laura L; Wu, Wenhui W; Gelincik, Ozkan O; Bommi, Prashant V PV; Francisco-Cruz, Alejandro A; Solis, Luisa M LM; Lynch, Patrick M PM; Lim, Ramona R; Stoffel, Elena M EM; Kanth, Priyanka P; Samadder, N Jewel NJ; Mork, Maureen E ME; Taggart, Melissa W MW; Milne, Ginger L GL; Marnett, Lawrence J LJ; Vornik, Lana L; Liu, Diane D DD; Revuelta, Maria M; Chang, Kyle K; You, Y Nancy YN; Kopelovich, Levy L; Wistuba, Ignacio I II; Lee, J Jack JJ; Sei, Shizuko S; Shoemaker, Robert H RH; Szabo, Eva E; Richmond, Ellen E; Umar, Asad A; Perloff, Marjorie M; Brown, Powel H PH; Lipkin, Steven M SM; Vilar, Eduardo E
Publication Date: 2021-03

Variant appearance in text: MLH1: 306G>A
PubMed Link: 32641470
Variant Present in the following documents:
  • gutjnl-2020-320946supp002.pdf
View BVdb publication page



Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

Bmc Medical Genomics
da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA
Publication Date: 2020-02-10

Variant appearance in text: MLH1: Glu102Glu; rs63751665
PubMed Link: 32039725
Variant Present in the following documents:
  • Main text
  • 12920_2019_Article_652.pdf
View BVdb publication page