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: BRCA1: 2028_2029del; Gly677fs; rs397508931

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.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: BRCA1: 2028_2029del; Gly677Serfs*5; rs397508931

PubMed Link: 36385461

Variant Present in the following documents:

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

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: BRCA1: 2028_2029delTG; Gly677fs; rs397508931

PubMed Link: 35420638

Variant Present in the following documents:

• jamaoncol-e220476-s001.pdf

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: BRCA1: 2028_2029delTG; Gly677Serfs; rs397508931

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients.

Scientific Reports

Sugino, Kentaro K; Tamura, Ryo R; Nakaoka, Hirofumi H; Yachida, Nozomi N; Yamaguchi, Manako M; Mori, Yutaro Y; Yamawaki, Kaoru K; Suda, Kazuaki K; Ishiguro, Tatsuya T; Adachi, Sosuke S; Isobe, Masanori M; Yamaguchi, Masayuki M; Kashima, Katsunori K; Motoyama, Teiichi T; Inoue, Ituro I; Yoshihara, Kosuke K; Enomoto, Takayuki T

Publication Date: 2019-11-28

Variant appearance in text: BRCA1: 2028_2029del

PubMed Link: 31780705

Variant Present in the following documents:

• Main text
• 41598_2019_Article_54116.pdf

View BVdb publication page