PALB2 c.3513G>C ;(p.L1171F)

Variant ID: 16-23614828-C-G

NM_024675.3(PALB2):c.3513G>C;(p.L1171F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: PALB2: 3513G>C; Leu1171Phe; rs1221176559
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.

Breast Cancer Research And Treatment
Nguyen-Dumont, TĂș T; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Teo, Zhi L ZL; Li, Roger R; Pope, Bernard J BJ; Terry, Mary Beth MB; Buys, Saundra S SS; Daly, Mary M; Hopper, John L JL; Winship, Ingrid I; Goldgar, David E DE; Park, Daniel J DJ; Southey, Melissa C MC
Publication Date: 2015-01

Variant appearance in text: PALB2: 3513G>C; L1171F
PubMed Link: 25575445
Variant Present in the following documents:
  • Main text
View BVdb publication page