Gemma Llort
Overview
Explore the profile of Gemma Llort including associated specialties, affiliations and a list of published articles.
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Articles
35
Citations
629
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Recent Articles
1.
Munte E, Feliubadalo L, Del Valle J, Gonzalez S, Ramos-Muntada M, Balmana J, et al.
J Mol Diagn
. 2024 Jun;
26(8):727-738.
PMID: 38851388
The molecular diagnosis of mismatch repair-deficient cancer syndromes is hampered by difficulties in sequencing the PMS2 gene, mainly owing to the PMS2CL pseudogene. Next-generation sequencing short reads cannot be mapped...
2.
Herrera-Pariente C, Bonjoch L, Munoz J, Fernandez G, Soares de Lima Y, Mahmood R, et al.
Gastric Cancer
. 2024 May;
27(4):747-759.
PMID: 38796558
Background: CDH1 and CTNNA1 remain as the main genes for hereditary gastric cancer. However, they only explain a small fraction of gastric cancer cases with suspected inherited basis. In this...
3.
Torres-Esquius S, Llop-Guevara A, Gutierrez-Enriquez S, Romey M, Teule A, Llort G, et al.
JAMA Netw Open
. 2024 Apr;
7(4):e247811.
PMID: 38648056
Importance: RAD51C and RAD51D are involved in DNA repair by homologous recombination. Germline pathogenic variants (PVs) in these genes are associated with an increased risk of ovarian and breast cancer....
4.
Lozano R, Castro E, Lopez-Campos F, Thorne H, Ramirez-Backhaus M, Aragon I, et al.
Eur J Cancer
. 2023 Mar;
185:105-118.
PMID: 36972661
Background: Several studies have reported the association of germline BRCA2 (gBRCA2) mutations with poor clinical outcomes in prostate cancer (PCa), but the impact of concurrent somatic events on gBRCA2 carriers...
5.
Rofes P, Gonzalez S, Navarro M, Moreno-Cabrera J, Solanes A, Darder E, et al.
J Mol Diagn
. 2021 Aug;
23(11):1452-1459.
PMID: 34454113
Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome responsible for 1% of colorectal cancers (CRCs). Up to 90% of classic FAPs are caused by inactivating mutations in APC, and...
6.
Sanchez-Heras A, Castillejo A, Garcia-Diaz J, Robledo M, Teule A, Sanchez R, et al.
Cancers (Basel)
. 2020 Nov;
12(11).
PMID: 33167498
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs)....
7.
Sanchez A, Roos V, Navarro M, Pineda M, Caballol B, Moreno L, et al.
Clin Gastroenterol Hepatol
. 2020 Nov;
20(3):611-621.e9.
PMID: 33157315
Background & Aims: Colonoscopy reduces colorectal cancer (CRC) incidence and mortality in Lynch syndrome (LS) carriers. However, a high incidence of postcolonoscopy CRC (PCCRC) has been reported. Colonoscopy is highly...
8.
Cuatrecasas M, Gorostiaga I, Riera C, Saperas E, Llort G, Costa I, et al.
Cancers (Basel)
. 2020 Oct;
12(10).
PMID: 33003511
The use of epithelial cell adhesion molecule (EPCAM) immunohistochemistry (IHC) is not included in the colorectal cancer (CRC) screening algorithm to detect Lynch syndrome (LS) patients. The aim of the...
9.
Mur P, Garcia-Mulero S, Del Valle J, Magraner-Pardo L, Vidal A, Pineda M, et al.
Genet Med
. 2020 Aug;
22(12):2089-2100.
PMID: 32792570
Purpose: Germline pathogenic variants in the exonuclease domain (ED) of polymerases POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC), endometrial tumors, and other malignancies, and exhibit increased mutation...
10.
Pico M, Sanchez-Heras A, Castillejo A, Giner-Calabuig M, Alustiza M, Sanchez A, et al.
Cancers (Basel)
. 2020 Aug;
12(8).
PMID: 32784934
Lynch syndrome (LS) is a common cause of hereditary colorectal cancer (CRC). Some CRC patients develop mismatch repair deficiency without germline pathogenic mutation, known as Lynch-like syndrome (LLS). We compared...