Publications:

Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma.

International Journal Of Molecular Sciences

Pastorino, Lorenza L; Dalmasso, Bruna B; Allavena, Eleonora E; Vanni, Irene I; Ugolini, Filippo F; Baroni, Gianna G; Croce, Michela M; Guadagno, Antonio A; Cabiddu, Francesco F; Andreotti, Virginia V; Bruno, William W; Zoppoli, Gabriele G; Ferrando, Lorenzo L; Tanda, Enrica Teresa ET; Spagnolo, Francesco F; Menin, Chiara C; Gangemi, Rosaria R; Massi, Daniela D; Ghiorzo, Paola P

Publication Date: 2022-12-16

Variant appearance in text: ATM: Ser1135_Lys1192del

PubMed Link: 36555667

Variant Present in the following documents:

• Main text
• ijms-23-16027.pdf

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Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.

Bmc Medical Genomics

Lee, Hoo Young HY; Jang, Dae-Hyun DH; Kim, Jae-Won JW; Lee, Dong-Woo DW; Jang, Ja-Hyun JH; Joo, Joungsu J

Publication Date: 2021-08-17

Variant appearance in text: ATM: 3403_6006del; Ser1135_Gln2002del

PubMed Link: 34404412

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1053.pdf

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Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.

Journal Of Clinical Medicine

Germani, Aldo A; Petrucci, Simona S; De Marchis, Laura L; Libi, Fabio F; Savio, Camilla C; Amanti, Claudio C; Bonifacino, Adriana A; Campanella, Barbara B; Capalbo, Carlo C; Lombardi, Augusto A; Maggi, Stefano S; Mattei, Mauro M; Osti, Mattia Falchetto MF; Pellegrini, Patrizia P; Speranza, Annarita A; Stanzani, Gianluca G; Vitale, Valeria V; Pizzuti, Antonio A; Torrisi, Maria Rosaria MR; Piane, Maria M

Publication Date: 2020-09-17

Variant appearance in text: ATM: Ser1135_Lys1192del

PubMed Link: 32957588

Variant Present in the following documents:

• Main text
• jcm-09-03003.pdf

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One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Journal Of Medical Genetics

Fostira, Florentia F; Kostantopoulou, Irene I; Apostolou, Paraskevi P; Papamentzelopoulou, Myrto S MS; Papadimitriou, Christos C; Faliakou, Eleni E; Christodoulou, Christos C; Boukovinas, Ioannis I; Razis, Evangelia E; Tryfonopoulos, Dimitrios D; Barbounis, Vasileios V; Vagena, Andromache A; Vlachos, Ioannis S IS; Kalfakakou, Despoina D; Fountzilas, George G; Yannoukakos, Drakoulis D

Publication Date: 2020-01

Variant appearance in text: ATM: Ser1135_Lys1192del

PubMed Link: 31300551

Variant Present in the following documents:

• jmedgenet-2019-106189supp005.pdf

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Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Breast Cancer Research : Bcr

Renault, Anne-Laure AL; Mebirouk, Noura N; Fuhrmann, Laetitia L; Bataillon, Guillaume G; Cavaciuti, Eve E; Le Gal, Dorothée D; Girard, Elodie E; Popova, Tatiana T; La Rosa, Philippe P; Beauvallet, Juana J; Eon-Marchais, Séverine S; Dondon, Marie-Gabrielle MG; d'Enghien, Catherine Dubois CD; Laugé, Anthony A; Chemlali, Walid W; Raynal, Virginie V; Labbé, Martine M; Bièche, Ivan I; Baulande, Sylvain S; Bay, Jacques-Olivier JO; Berthet, Pascaline P; Caron, Olivier O; Buecher, Bruno B; Faivre, Laurence L; Fresnay, Marc M; Gauthier-Villars, Marion M; Gesta, Paul P; Janin, Nicolas N; Lejeune, Sophie S; Maugard, Christine C; Moutton, Sébastien S; Venat-Bouvet, Laurence L; Zattara, Hélène H; Fricker, Jean-Pierre JP; Gladieff, Laurence L; Coupier, Isabelle I; , ; , ; , ; Chenevix-Trench, Georgia G; Hall, Janet J; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Lesueur, Fabienne F

Publication Date: 2018-04-17

Variant appearance in text: ATM: Ser1135_Lys1192del

PubMed Link: 29665859

Variant Present in the following documents:

• Main text
• 13058_2018_Article_951.pdf

View BVdb publication page