MLH1 c.2103+1G>A

Variant ID: 3-37090509-G-A

NM_000249.3(MLH1):c.2103+1G>A

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: MLH1: 2103+1G>A; rs267607888
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MLH1: 2103+1G>A
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: MLH1: 2103+1G>A
PubMed Link: 32510614
Variant Present in the following documents:
  • IJC-147-2150-s001.pdf
View BVdb publication page



Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.

Molecular Genetics & Genomic Medicine
Xavier, Alexandre A; Olsen, Maren Fridtjofsen MF; Lavik, Liss A LA; Johansen, Jostein J; Singh, Ashish Kumar AK; Sjursen, Wenche W; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-08

Variant appearance in text: rs267607888
PubMed Link: 31297992
Variant Present in the following documents:
  • Main text
  • MGG3-7-e850.pdf
View BVdb publication page



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: MLH1: 2103+1G>A
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome.

Gastroenterology Research And Practice
Moreno-Ortiz, Jose Miguel JM; Ayala-Madrigal, María de la Luz Mde L; Corona-Rivera, Jorge Román JR; Centeno-Flores, Manuel M; Maciel-Gutiérrez, Víctor V; Franco-Topete, Ramón Antonio RA; Armendáriz-Borunda, Juan J; Hotchkiss, Erin E; Pérez-Carbonell, Lucia L; Rhees, Jennifer J; Boland, Clement Richard CR; Gutiérrez-Angulo, Melva M
Publication Date: 2016

Variant appearance in text: N/A
PubMed Link: 27247567
Variant Present in the following documents:
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: MLH1: 2103+1G>A
PubMed Link: 17453009
Variant Present in the following documents:
  • Main text
View BVdb publication page