Publications:

Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.

Cancers

Pastorino, Lorenza L; Andreotti, Virginia V; Dalmasso, Bruna B; Vanni, Irene I; Ciccarese, Giulia G; Mandalà, Mario M; Spadola, Giuseppe G; Pizzichetta, Maria Antonietta MA; Ponti, Giovanni G; Tibiletti, Maria Grazia MG; Sala, Elena E; Genuardi, Maurizio M; Chiurazzi, Pietro P; Maccanti, Gabriele G; Manoukian, Siranoush S; Sestini, Serena S; Danesi, Rita R; Zampiga, Valentina V; La Starza, Roberta R; Stanganelli, Ignazio I; Ballestrero, Alberto A; Mastracci, Luca L; Grillo, Federica F; Sciallero, Stefania S; Cecchi, Federica F; Tanda, Enrica Teresa ET; Spagnolo, Francesco F; Queirolo, Paola P; Italian Melanoma Intergroup (IMI), ; Goldstein, Alisa M AM; Bruno, William W; Ghiorzo, Paola P

Publication Date: 2020-04-19

Variant appearance in text: PC: 280C>A; Gln94Lys

PubMed Link: 32325837

Variant Present in the following documents:

• Main text

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: PC: Q94K

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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The molecular genetic analysis of the expanding pachyonychia congenita case collection.

The British Journal Of Dermatology

Wilson, N J NJ; O'Toole, E A EA; Milstone, L M LM; Hansen, C D CD; Shepherd, A A AA; Al-Asadi, E E; Schwartz, M E ME; McLean, W H I WH; Sprecher, E E; Smith, F J D FJ

Publication Date: 2014-08

Variant appearance in text: PC: 280C>A

PubMed Link: 24611874

Variant Present in the following documents:

• Main text

View BVdb publication page