Publications:

A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report.

Frontiers In Oncology

Colombo, Mara M; Mondini, Patrizia P; Minenza, Elisa E; Foglia, Claudia C; Mosconi, Annamaria A; Molica, Carmen C; Pistola, Lorenza L; Ludovini, Vienna V; Radice, Paolo P

Publication Date: 2023

Variant appearance in text: ATM: 181T>G

PubMed Link: 37025588

Variant Present in the following documents:

• Main text

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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg

McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER

Publication Date: 2022-03

Variant appearance in text: ATM: 181T>G

PubMed Link: 34983940

Variant Present in the following documents:

• 41431_2021_1013_MOESM1_ESM.pdf

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Lost in translation: returning germline genetic results in genome-scale cancer research.

Genome Medicine

Johns, Amber L AL; McKay, Skye H SH; Humphris, Jeremy L JL; Pinese, Mark M; Chantrill, Lorraine A LA; Mead, R Scott RS; Tucker, Katherine K; Andrews, Lesley L; Goodwin, Annabel A; Leonard, Conrad C; High, Hilda A HA; Nones, Katia K; Patch, Ann-Marie AM; Merrett, Neil D ND; Pavlakis, Nick N; Kassahn, Karin S KS; Samra, Jaswinder S JS; Miller, David K DK; Chang, David K DK; Pajic, Marina M; , ; Pearson, John V JV; Grimmond, Sean M SM; Waddell, Nicola N; Zeps, Nikolajs N; Gill, Anthony J AJ; Biankin, Andrew V AV

Publication Date: 2017-04-28

Variant appearance in text: ATM: 181T>G

PubMed Link: 28454591

Variant Present in the following documents:

• 13073_2017_Article_430.pdf

View BVdb publication page