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: BRCA2: 316+2T>C; rs81002805

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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: 316+2T>C

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: BRCA2: 316+2T>C

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

SpliceVault predicts the precise nature of variant-associated mis-splicing.

Nature Genetics

Dawes, Ruebena R; Bournazos, Adam M AM; Bryen, Samantha J SJ; Bommireddipalli, Shobhana S; Marchant, Rhett G RG; Joshi, Himanshu H; Cooper, Sandra T ST

Publication Date: 2023-02-06

Variant appearance in text: BRCA2: 316+2T>C

PubMed Link: 36747048

Variant Present in the following documents:

• 41588_2022_1293_MOESM16_ESM.xlsx, sheet 3
• 41588_2022_1293_MOESM16_ESM.xlsx, sheet 4
• 41588_2022_1293_MOESM3_ESM.xlsx, sheet 3

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: 316+2T>C

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159-s002.xlsx, sheet 2
• IJC-152-1159-s005.xlsx, sheet 3
• IJC-152-1159-s011.xlsx, sheet 2
• IJC-152-1159-s010.xlsx, sheet 4
• IJC-152-1159-s006.xlsx, sheet 3

View BVdb publication page

---

Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: BRCA2: 316+2T>C

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

---

Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

Jama Oncology

Momozawa, Yukihide Y; Sasai, Rumi R; Usui, Yoshiaki Y; Shiraishi, Kouya K; Iwasaki, Yusuke Y; Taniyama, Yukari Y; Parsons, Michael T MT; Mizukami, Keijiro K; Sekine, Yuya Y; Hirata, Makoto M; Kamatani, Yoichiro Y; Endo, Mikiko M; Inai, Chihiro C; Takata, Sadaaki S; Ito, Hidemi H; Kohno, Takashi T; Matsuda, Koichi K; Nakamura, Seigo S; Sugano, Kokichi K; Yoshida, Teruhiko T; Nakagawa, Hidewaki H; Matsuo, Keitaro K; Murakami, Yoshinori Y; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2022-06-01

Variant appearance in text: BRCA2: 316+2T>C; rs81002805

PubMed Link: 35420638

Variant Present in the following documents:

• jamaoncol-e220476-s001.pdf

View BVdb publication page

---

Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.

Communications Biology

Inagaki-Kawata, Yukiko Y; Yoshida, Kenichi K; Kawaguchi-Sakita, Nobuko N; Kawashima, Masahiro M; Nishimura, Tomomi T; Senda, Noriko N; Shiozawa, Yusuke Y; Takeuchi, Yasuhide Y; Inoue, Yoshikage Y; Sato-Otsubo, Aiko A; Fujii, Yoichi Y; Nannya, Yasuhito Y; Suzuki, Eiji E; Takada, Masahiro M; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Chiba, Kenichi K; Kataoka, Yuki Y; Torii, Masae M; Yoshibayashi, Hiroshi H; Yamagami, Kazuhiko K; Okamura, Ryuji R; Moriguchi, Yoshio Y; Kato, Hironori H; Tsuyuki, Shigeru S; Yamauchi, Akira A; Suwa, Hirofumi H; Inamoto, Takashi T; Miyano, Satoru S; Ogawa, Seishi S; Toi, Masakazu M

Publication Date: 2020-10-16

Variant appearance in text: BRCA2: 316+2T>C

PubMed Link: 33067557

Variant Present in the following documents:

• 42003_2020_1301_MOESM1_ESM.pdf

View BVdb publication page

---

Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: BRCA2: 316+2T>C

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

---

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

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

Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE

Publication Date: 2020-04

Variant appearance in text: BRCA2: 316+2T>C

PubMed Link: 31853058

Variant Present in the following documents:

• 41436_2019_729_MOESM3_ESM.xls, sheet 1

View BVdb publication page

---

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

Oncotarget

Caputo, Sandrine M SM; Léone, Mélanie M; Damiola, Francesca F; Ehlen, Asa A; Carreira, Aura A; Gaidrat, Pascaline P; Martins, Alexandra A; Brandão, Rita D RD; Peixoto, Ana A; Vega, Ana A; Houdayer, Claude C; Delnatte, Capucine C; Bronner, Myriam M; Muller, Danièle D; Castera, Laurent L; Guillaud-Bataille, Marine M; Søkilde, Inge I; Uhrhammer, Nancy N; Demontety, Sophie S; Tubeuf, Hélène H; Castelain, Gaïa G; , ; Jensen, Uffe Birk UB; Petitalot, Ambre A; Krieger, Sophie S; Lefol, Cédrick C; Moncoutier, Virginie V; Boutry-Kryza, Nadia N; Nielsen, Henriette Roed HR; Sinilnikova, Olga O; Stoppa-Lyonnet, Dominique D; Spurdle, Amanda B AB; Teixeira, Manuel R MR; Coulet, Florence F; Thomassen, Mads M; Rouleau, Etienne E

Publication Date: 2018-04-03

Variant appearance in text: BRCA2: 316+2T>C

PubMed Link: 29707112

Variant Present in the following documents:

• Main text
• oncotarget-09-17334-s001.pdf
• oncotarget-09-17334.pdf

View BVdb publication page

---

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: BRCA2: 316+2T>C

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: BRCA2: 316+2T>C

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

---