Publications:

Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI).

Diagnostic Pathology

Vanni, Irene I; Casula, Milena M; Pastorino, Lorenza L; Manca, Antonella A; Dalmasso, Bruna B; Andreotti, Virginia V; Pisano, Marina M; Colombino, Maria M; , ; Pfeffer, Ulrich U; Tanda, Enrica Teresa ET; Rozzo, Carla C; Paliogiannis, Panagiotis P; Cossu, Antonio A; Ghiorzo, Paola P; Palmieri, Giuseppe G; ,

Publication Date: 2020-12-14

Variant appearance in text: PIK3CA: 319A>C; Asn107His

PubMed Link: 33317587

Variant Present in the following documents:

• 13000_2020_1052_MOESM4_ESM.xlsx, sheet 1
• 13000_2020_1052_MOESM5_ESM.xlsx, sheet 1
• 13000_2020_1052_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: PIK3CA: N107H

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: PIK3CA: Asn107His

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 6

View BVdb publication page

Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine

Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-28

Variant appearance in text: PIK3CA: 319A>C; Asn107His

PubMed Link: 31455347

Variant Present in the following documents:

• 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer

Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-05

Variant appearance in text: PIK3CA: N107H

PubMed Link: 31382929

Variant Present in the following documents:

• Main text
• 12885_2019_5984_MOESM2_ESM.pdf

View BVdb publication page