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: N/A

PubMed Link: 36922933

Variant Present in the following documents:

View BVdb publication page

---

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: BRCA2: 7976+5G>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

---

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer

Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM

Publication Date: 2022-11-17

Variant appearance in text: BRCA2: 7976+5G>T

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s010.xlsx, sheet 2

View BVdb publication page

---

Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.

The Journal Of Pathology

Bueno-Martínez, Elena E; Sanoguera-Miralles, Lara L; Valenzuela-Palomo, Alberto A; Esteban-Sánchez, Ada A; Lorca, Víctor V; Llinares-Burguet, Inés I; Allen, Jamie J; García-Álvarez, Alicia A; Pérez-Segura, Pedro P; Durán, Mercedes M; Easton, Douglas F DF; Devilee, Peter P; Vreeswijk, Maaike Pg MP; de la Hoya, Miguel M; Velasco-Sampedro, Eladio A EA

Publication Date: 2022-09

Variant appearance in text: BRCA2: 7976+5G>T

PubMed Link: 35716007

Variant Present in the following documents:

• Main text
• PATH-258-83.pdf

View BVdb publication page

---

Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.

The Journal Of Pathology

Valenzuela-Palomo, Alberto A; Bueno-Martínez, Elena E; Sanoguera-Miralles, Lara L; Lorca, Víctor V; Fraile-Bethencourt, Eugenia E; Esteban-Sánchez, Ada A; Gómez-Barrero, Susana S; Carvalho, Sara S; Allen, Jamie J; García-Álvarez, Alicia A; Pérez-Segura, Pedro P; Dorling, Leila L; Easton, Douglas F DF; Devilee, Peter P; Vreeswijk, Maaike Pg MP; de la Hoya, Miguel M; Velasco, Eladio A EA

Publication Date: 2022-03

Variant appearance in text: BRCA2: 7976+5G>T

PubMed Link: 34846068

Variant Present in the following documents:

• Main text
• PATH-256-321.pdf

View BVdb publication page

---

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.

Cancers

Bueno-Martínez, Elena E; Sanoguera-Miralles, Lara L; Valenzuela-Palomo, Alberto A; Lorca, Víctor V; Gómez-Sanz, Alicia A; Carvalho, Sara S; Allen, Jamie J; Infante, Mar M; Pérez-Segura, Pedro P; Lázaro, Conxi C; Easton, Douglas F DF; Devilee, Peter P; Vreeswijk, Maaike P G MPG; de la Hoya, Miguel M; Velasco, Eladio A EA

Publication Date: 2021-06-07

Variant appearance in text: BRCA2: 7976+5G>T

PubMed Link: 34200360

Variant Present in the following documents:

• Main text
• cancers-13-02845.pdf

View BVdb publication page

---

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.

Frontiers In Genetics

Fraile-Bethencourt, Eugenia E; Valenzuela-Palomo, Alberto A; Díez-Gómez, Beatriz B; Caloca, María José MJ; Gómez-Barrero, Susana S; Velasco, Eladio A EA

Publication Date: 2019

Variant appearance in text: BRCA2: 7976+5G>T

PubMed Link: 31191615

Variant Present in the following documents:

• Main text
• fgene-10-00503.pdf

View BVdb publication page

---

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer

Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM

Publication Date: 2019-08-15

Variant appearance in text: rs786201180

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s005.xlsx, sheet 1

View BVdb publication page

---

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Human Mutation

Vallée, Maxime P MP; Di Sera, Tonya L TL; Nix, David A DA; Paquette, Andrew M AM; Parsons, Michael T MT; Bell, Russel R; Hoffman, Andrea A; Hogervorst, Frans B L FB; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV

Publication Date: 2016-07

Variant appearance in text: BRCA2: 7976+5G>T

PubMed Link: 26913838

Variant Present in the following documents:

• HUMU-37-627-s001.xlsx, sheet 1

View BVdb publication page

---