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: 1222T>C; Tyr408His; rs515726064

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

---

Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: PALB2: 1222T>C; Y408H

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: PALB2: 1222T>C; Tyr408His; rs515726064

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Frontiers In Molecular Biosciences

Boonen, Rick A C M RACM; Vreeswijk, Maaike P G MPG; van Attikum, Haico H

Publication Date: 2020

Variant appearance in text: PALB2: 1222T>C; Y408H

PubMed Link: 33195396

Variant Present in the following documents:

• fmolb-07-00169.pdf

View BVdb publication page

---

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.

Journal Of Translational Medicine

Velázquez, Carolina C; Lastra, Enrique E; Avila Cobos, Francisco F; Abella, Luis L; de la Cruz, Virginia V; Hernando, Blanca Ascensión BA; Hernández, Lara L; Martínez, Noemí N; Infante, Mar M; Durán, Mercedes M

Publication Date: 2020-06-10

Variant appearance in text: PALB2: 1222T>C; Tyr408His

PubMed Link: 32522261

Variant Present in the following documents:

• 12967_2020_2391_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Nature Communications

Boonen, Rick A C M RACM; Rodrigue, Amélie A; Stoepker, Chantal C; Wiegant, Wouter W WW; Vroling, Bas B; Sharma, Milan M; Rother, Magdalena B MB; Celosse, Nandi N; Vreeswijk, Maaike P G MPG; Couch, Fergus F; Simard, Jacques J; Devilee, Peter P; Masson, Jean-Yves JY; van Attikum, Haico H

Publication Date: 2019-11-22

Variant appearance in text: PALB2: Y408H

PubMed Link: 31757951

Variant Present in the following documents:

• Main text
• 41467_2019_13194_MOESM1_ESM.pdf
• 41467_2019_13194_MOESM4_ESM.xlsx, sheet 1
• 41467_2019_Article_13194.pdf

View BVdb publication page

---

Functional characterization of 84 PALB2 variants of uncertain significance.

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

Wiltshire, Timothy T; Ducy, Mandy M; Foo, Tzeh Keong TK; Hu, Chunling C; Lee, Kun Y KY; Belur Nagaraj, Anil A; Rodrigue, Amélie A; Gomes, Thiago T TT; Simard, Jacques J; Monteiro, Alvaro N A ANA; Xia, Bing B; Carvalho, Marcelo A MA; Masson, Jean-Yves JY; Couch, Fergus J FJ

Publication Date: 2020-03

Variant appearance in text: PALB2: 1222T>C; Tyr408His

PubMed Link: 31636395

Variant Present in the following documents:

• Main text
• 41436_2019_Article_682.pdf

View BVdb publication page

---

Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer.

Wellcome Open Research

Bleuyard, Jean-Yves JY; Butler, Rosie M RM; Esashi, Fumiko F

Publication Date: 2017

Variant appearance in text: PALB2: Y408H; rs515726064

PubMed Link: 29387807

Variant Present in the following documents:

• Main text
• wellcomeopenres-2-14894.pdf

View BVdb publication page

---