Publications:

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.

Familial Cancer

Myszka, Aleksander A; Nguyen-Dumont, Tu T; Karpinski, Pawel P; Sasiadek, Maria M MM; Akopyan, Hayane H; Hammet, Fleur F; Tsimiklis, Helen H; Park, Daniel J DJ; Pope, Bernard J BJ; Slezak, Ryszard R; Kitsera, Nataliya N; Siekierzynska, Aleksandra A; Southey, Melissa C MC

Publication Date: 2018-07

Variant appearance in text: PALB2: A427A; rs138697796

PubMed Link: 29052111

Variant Present in the following documents:

• Main text
• 10689_2017_Article_50.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PALB2: 1281T>C; Ala427=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page