PALB2 c.1194G>T ;(p.V398=)

Variant ID: 16-23646673-C-A

NM_024675.3(PALB2):c.1194G>T;(p.V398=)

This variant was identified in 9 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: Val398=; rs61755173
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: PALB2: Val398=; rs61755173
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



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: V398V; rs61755173
PubMed Link: 29052111
Variant Present in the following documents:
  • Main text
  • 10689_2017_Article_50.pdf
View BVdb publication page



Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11

Variant appearance in text: rs61755173
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp007.pdf
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page



Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

Breast Cancer Research : Bcr
Thompson, Ella R ER; Gorringe, Kylie L KL; Rowley, Simone M SM; Wong-Brown, Michelle W MW; McInerny, Simone S; Li, Na N; Trainer, Alison H AH; Devereux, Lisa L; Doyle, Maria A MA; Li, Jason J; Lupat, Richard R; Delatycki, Martin B MB; , ; Mitchell, Gillian G; James, Paul A PA; Scott, Rodney J RJ; Campbell, Ian G IG
Publication Date: 2015-08-19

Variant appearance in text: rs61755173
PubMed Link: 26283626
Variant Present in the following documents:
  • Main text
  • 13058_2015_Article_627.pdf
View BVdb publication page



Assessment of PALB2 as a candidate melanoma susceptibility gene.

Plos One
Aoude, Lauren G LG; Xu, Mai M; Zhao, Zhen Zhen ZZ; Kovacs, Michael M; Palmer, Jane M JM; Johansson, Peter P; Symmons, Judith J; Trent, Jeffrey M JM; Martin, Nicholas G NG; Montgomery, Grant W GW; Brown, Kevin M KM; Hayward, Nicholas K NK
Publication Date: 2014

Variant appearance in text: PALB2: 1194G>A; V398V; rs61755173
PubMed Link: 24949998
Variant Present in the following documents:
  • Main text
  • pone.0100683.pdf
View BVdb publication page



Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.

Plos One
Blanco, Ana A; de la Hoya, Miguel M; Osorio, Ana A; Diez, Orland O; Miramar, María Dolores MD; Infante, Mar M; Martinez-Bouzas, Cristina C; Torres, Asunción A; Lasa, Adriana A; Llort, Gemma G; Brunet, Joan J; Graña, Begoña B; Perez Segura, Pedro P; Garcia, María José MJ; Gutiérrez-Enríquez, Sara S; Carracedo, Ángel Á; Tejada, María-Isabel MI; Velasco, Eladio A EA; Calvo, María-Teresa MT; Balmaña, Judith J; Benitez, Javier J; Caldés, Trinidad T; Vega, Ana A
Publication Date: 2013

Variant appearance in text: rs61755173
PubMed Link: 23935836
Variant Present in the following documents:
  • pone.0067538.pdf
View BVdb publication page



PALB2 mutations in familial breast and pancreatic cancer.

Familial Cancer
Hofstatter, Erin W EW; Domchek, Susan M SM; Miron, Alexander A; Garber, Judy J; Wang, Molin M; Componeschi, Kathryn K; Boghossian, Leigh L; Miron, Penelope L PL; Nathanson, Katherine L KL; Tung, Nadine N
Publication Date: 2011-06

Variant appearance in text: PALB2: V398V
PubMed Link: 21365267
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer.

Gastroenterology
Tischkowitz, Marc D MD; Sabbaghian, Nelly N; Hamel, Nancy N; Borgida, Ayelet A; Rosner, Chaim C; Taherian, Nassim N; Srivastava, Archana A; Holter, Spring S; Rothenmund, Heidi H; Ghadirian, Parviz P; Foulkes, William D WD; Gallinger, Steven S
Publication Date: 2009-09

Variant appearance in text: PALB2: V398V
PubMed Link: 19635604
Variant Present in the following documents:
  • Main text
View BVdb publication page