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: 5645C>A; Ser1882Ter; rs80358785

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.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: 5645C>A; Ser1882Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One

Rao, Nandana D ND; Shirts, Brian H BH

Publication Date: 2023

Variant appearance in text: BRCA2: 5645C>A

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.xlsx, sheet 1

View BVdb publication page

---

Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Bmc Medical Genomics

Adam, Felicia F; Fluri, Muriel M; Scherz, Amina A; Rabaglio, Manuela M

Publication Date: 2023-01-16

Variant appearance in text: BRCA2: 5645C>A

PubMed Link: 36647026

Variant Present in the following documents:

• 12920_2023_1437_MOESM2_ESM.xlsx, sheet 2
• 12920_2023_1437_MOESM2_ESM.xlsx, sheet 1
• 12920_2023_1437_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Inherited mutations in Chinese patients with upper tract urothelial carcinoma.

Cell Reports. Medicine

Wu, Junlong J; Jin, Shengming S; Gu, Chengyuan C; Wei, Yu Y; Zhu, Yao Y; Necchi, Andrea A; Shariat, Shahrokh F SF; Pan, Jian J; Gan, Hualei H; Dai, Bo B; Zhang, Hailiang H; Shi, Guohai G; Zhu, Yu Y; Shen, Yijun Y; Zhu, Yiping Y; Ye, Dingwei D

Publication Date: 2022-12-23

Variant appearance in text: BRCA2: 5645C>A; S1882*

PubMed Link: 36630951

Variant Present in the following documents:

• mmc5.pdf
• main.pdf

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: 5645C>A

PubMed Link: 36385461

Variant Present in the following documents:

• Main text
• IJC-152-1159-s010.xlsx, sheet 6
• IJC-152-1159-s005.xlsx, sheet 3
• IJC-152-1159-s011.xlsx, sheet 3
• IJC-152-1159-s011.xlsx, sheet 2
• IJC-152-1159-s005.xlsx, sheet 2
• IJC-152-1159-s002.xlsx, sheet 2
• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159.pdf
• IJC-152-1159-s010.xlsx, sheet 1

View BVdb publication page

---

Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Life Science Alliance

Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P

Publication Date: 2022-10-13

Variant appearance in text: BRCA2: Ser1882Ter

PubMed Link: 36229065

Variant Present in the following documents:

• LSA-2022-01551_TableS15.xlsx, sheet 1

View BVdb publication page

---

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Communications Biology

Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC

Publication Date: 2022-10-06

Variant appearance in text: BRCA2: 5645C>A; Ser1882X

PubMed Link: 36203093

Variant Present in the following documents:

• 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14

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: 5645C>A; Ser1882*

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

---

Comparison of Homologous Recombination Repair Gene Next-Generation Sequencing Analysis in Patients With Metastatic Castration-Resistant Prostate Cancer Between Local and Central Laboratories in Korea.

Annals Of Laboratory Medicine

Kim, Yoonjung Y; Park, Inho I; Kim, Boyeon B; Choi, Yu Jeong YJ; Oh, Seoung Chul SC; Lee, Kyung-A KA

Publication Date: 2023-01-01

Variant appearance in text: BRCA2: 5645C>A; Ser1882Ter

PubMed Link: 36045058

Variant Present in the following documents:

• alm-43-1-64-supple.pdf
• alm-43-1-64.pdf

View BVdb publication page

---

BRCA Mutations in Ovarian and Prostate Cancer: Bench to Bedside.

Cancers

Boussios, Stergios S; Rassy, Elie E; Moschetta, Michele M; Ghose, Aruni A; Adeleke, Sola S; Sanchez, Elisabet E; Sheriff, Matin M; Chargari, Cyrus C; Pavlidis, Nicholas N

Publication Date: 2022-08-11

Variant appearance in text: BRCA2: S1882X

PubMed Link: 36010882

Variant Present in the following documents:

• Main text
• cancers-14-03888.pdf

View BVdb publication page

---

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.

Bmc Cancer

Zhang, Yunuo Y; Wu, Heming H; Yu, Zhikang Z; Li, Liang L; Zhang, Jinhong J; Liang, Xinhong X; Huang, Qingyan Q

Publication Date: 2022-08-02

Variant appearance in text: BRCA2: 5645C>A; Ser1882*

PubMed Link: 35918668

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9943.pdf

View BVdb publication page

---

Prevalence of pathogenic germline variants in the circulating tumor DNA testing.

International Journal Of Clinical Oncology

Yamamoto, Yoshihiro Y; Fukuyama, Keita K; Kanai, Masashi M; Kondo, Tomohiro T; Yoshioka, Masahiro M; Kou, Tadayuki T; Quy, Pham Nguyen PN; Kimura-Tsuchiya, Reiko R; Yamada, Takahiro T; Matsumoto, Shigemi S; Kosugi, Shinji S; Muto, Manabu M

Publication Date: 2022-10

Variant appearance in text: BRCA2: 5645C>A; S1882*

PubMed Link: 35870019

Variant Present in the following documents:

• Main text
• 10147_2022_Article_2220.pdf

View BVdb publication page

---

Reversal of viral and epigenetic HLA class I repression in Merkel cell carcinoma.

The Journal Of Clinical Investigation

Lee, Patrick C PC; Klaeger, Susan S; Le, Phuong M PM; Korthauer, Keegan K; Cheng, Jingwei J; Ananthapadmanabhan, Varsha V; Frost, Thomas C TC; Stevens, Jonathan D JD; Wong, Alan Yl AY; Iorgulescu, J Bryan JB; Tarren, Anna Y AY; Chea, Vipheaviny A VA; Carulli, Isabel P IP; Lemvigh, Camilla K CK; Pedersen, Christina B CB; Gartin, Ashley K AK; Sarkizova, Siranush S; Wright, Kyle T KT; Li, Letitia W LW; Nomburg, Jason J; Li, Shuqiang S; Huang, Teddy T; Liu, Xiaoxi X; Pomerance, Lucas L; Doherty, Laura M LM; Apffel, Annie M AM; Wallace, Luke J LJ; Rachimi, Suzanna S; Felt, Kristen D KD; Wolff, Jacquelyn O JO; Witten, Elizabeth E; Zhang, Wandi W; Neuberg, Donna D; Lane, William J WJ; Zhang, Guanglan G; Olsen, Lars R LR; Thakuria, Manisha M; Rodig, Scott J SJ; Clauser, Karl R KR; Starrett, Gabriel J GJ; Doench, John G JG; Buhrlage, Sara J SJ; Carr, Steven A SA; DeCaprio, James A JA; Wu, Catherine J CJ; Keskin, Derin B DB

Publication Date: 2022-07-01

Variant appearance in text: BRCA2: 5645C>A; Ser1882Ter; rs80358785

PubMed Link: 35775490

Variant Present in the following documents:

• jci-132-151666-s195.xlsx, sheet 2

View BVdb publication page

---

Prevalence of Pathogenic Germline BRCA1/2 Variants and Their Association with Clinical Characteristics in Patients with Epithelial Ovarian Cancer in a Rural Area of Japan.

Genes

Abe, Akiko A; Imoto, Issei I; Tange, Shoichiro S; Nishimura, Masato M; Iwasa, Takeshi T

Publication Date: 2022-06-18

Variant appearance in text: BRCA2: 5645C>A

PubMed Link: 35741847

Variant Present in the following documents:

• Main text
• genes-13-01085.pdf

View BVdb publication page

---

Whole-Exome Sequencing Could Distinguish Primary Pulmonary Squamous Cell Carcinoma From Lung Metastases in Individuals With Cervical Squamous Cell Carcinoma.

Pathology Oncology Research : Por

Li, Lihong L; Song, Qianqian Q; Cao, Dandan D; Jiao, Yuchen Y; Yuan, Guangwen G; Song, Yan Y

Publication Date: 2022

Variant appearance in text: BRCA2: 5645C>A; Ser1882Ter

PubMed Link: 35645619

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

---

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: BRCA2: 5645C>A; Ser1882Ter; rs80358785

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS5.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 4

View BVdb publication page

---

Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science

Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K

Publication Date: 2022-08

Variant appearance in text: N/A

PubMed Link: 35579198

Variant Present in the following documents:

View BVdb publication page

---

Differences in age at diagnosis of ovarian cancer for each BRCA mutation type in Japan: optimal timing to carry out risk-reducing salpingo-oophorectomy.

Journal Of Gynecologic Oncology

Sekine, Masayuki M; Enomoto, Takayuki T; Arai, Masami M; Den, Hiroki H; Nomura, Hiroyuki H; Ikeuchi, Takeshi T; Nakamura, Seigo S; ,

Publication Date: 2022-07

Variant appearance in text: N/A

PubMed Link: 35557031

Variant Present in the following documents:

View BVdb publication page

---

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics

Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R

Publication Date: 2022-04-25

Variant appearance in text: BRCA2: 5645C>A

PubMed Link: 35468810

Variant Present in the following documents:

• 12920_2022_1235_MOESM3_ESM.xlsx, sheet 1

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: 5645C>A; Ser1882*; rs80358785

PubMed Link: 35420638

Variant Present in the following documents:

• jamaoncol-e220476-s001.pdf

View BVdb publication page

---

Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.

Cell Genomics

Casaletto, James J; Parsons, Michael M; Markello, Charles C; Iwasaki, Yusuke Y; Momozawa, Yukihide Y; Spurdle, Amanda B AB; Cline, Melissa M

Publication Date: 2022-03-09

Variant appearance in text: BRCA2: 5645C>A

PubMed Link: 35373174

Variant Present in the following documents:

• nihms-1787799.pdf

View BVdb publication page

---

DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine

Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N

Publication Date: 2022-02-25

Variant appearance in text: BRCA2: 5645C>A

PubMed Link: 35209950

Variant Present in the following documents:

• 13073_2022_1027_MOESM22_ESM.xls, sheet 1

View BVdb publication page

---

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs80358785

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

---

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs80358785

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

---

Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions.

Frontiers In Genetics

Su, Yifan Y; Yao, Qianlan Q; Xu, Yuyin Y; Yu, Chengli C; Zhang, Jing J; Wang, Qian Q; Li, Jiwei J; Shi, Di D; Yu, Baohua B; Zeng, Yupeng Y; Zhu, Xiaoli X; Bai, Qianming Q; Zhou, Xiaoyan X

Publication Date: 2021

Variant appearance in text: BRCA2: 5645C>A

PubMed Link: 34917121

Variant Present in the following documents:

• Main text
• fgene-12-674094.pdf

View BVdb publication page

---

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Genome Medicine

Ho, Peh Joo PJ; Khng, Alexis J AJ; Loh, Hui Wen HW; Ho, Weang-Kee WK; Yip, Cheng Har CH; Mohd-Taib, Nur Aishah NA; Tan, Veronique Kiak Mien VKM; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Ern Yu EY; Lim, Swee Ho SH; Jamaris, Suniza S; Sim, Yirong Y; Wong, Fuh Yong FY; Ngeow, Joanne J; Lim, Elaine Hsuen EH; Tai, Mei Chee MC; Wijaya, Eldarina Azfar EA; Lee, Soo Chin SC; Chan, Ching Wan CW; Buhari, Shaik Ahmad SA; Chan, Patrick M Y PMY; Chen, Juliana J C JJC; Seah, Jaime Chin Mui JCM; Lee, Wai Peng WP; Mok, Chi Wei CW; Lim, Geok Hoon GH; Woo, Evan E; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Dunning, Alison M AM; Easton, Douglas F DF; Schmidt, Marjanka K MK; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M

Publication Date: 2021-12-02

Variant appearance in text: BRCA2: 5645C>A; Ser1882Ter

PubMed Link: 34857041

Variant Present in the following documents:

• 13073_2021_978_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.

Genome Medicine

Billaud, Amandine A; Chevalier, Louise-Marie LM; Augereau, Paule P; Frenel, Jean-Sebastien JS; Passot, Christophe C; Campone, Mario M; Morel, Alain A

Publication Date: 2021-11-09

Variant appearance in text: BRCA2: 5645C>A; Ser1882X

PubMed Link: 34749799

Variant Present in the following documents:

• Main text
• 13073_2021_976_MOESM1_ESM.pdf
• 13073_2021_Article_976.pdf

View BVdb publication page

---

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

European Urology

Lee, Daniel J DJ; Hausler, Ryan R; Le, Anh N AN; Kelly, Gregory G; Powers, Jacquelyn J; Ding, James J; Feld, Emily E; Desai, Heena H; Morrison, Casey C; Doucette, Abigail A; Gabriel, Peter P; Genetics Center, Regeneron R; Judy, Renae L RL; Weaver, Joellen J; Kember, Rachel R; Damrauer, Scott M SM; Rader, Daniel J DJ; Domchek, Susan M SM; Narayan, Vivek V; Schwartz, Lauren E LE; Maxwell, Kara N KN

Publication Date: 2022-06

Variant appearance in text: N/A

PubMed Link: 34711450

Variant Present in the following documents:

View BVdb publication page

---

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.

Genes

Resch, Luise D LD; Hotz, Alrun A; Zimmer, Andreas D AD; Komlosi, Katalin K; Singh, Nina N; Tzschach, Andreas A; Windfuhr-Blum, Marisa M; Juhasz-Boess, Ingolf I; Erbes, Thalia T; Fischer, Judith J; Alter, Svenja S

Publication Date: 2021-09-24

Variant appearance in text: BRCA2: 5645C>A; Ser1882*

PubMed Link: 34680878

Variant Present in the following documents:

• Main text
• genes-12-01483.pdf

View BVdb publication page

---

Germline and Somatic mutations in postmenopausal breast cancer patients.

Clinics (Sao Paulo, Brazil)

Nagy, Tauana Rodrigues TR; Maistro, Simone S; Encinas, Giselly G; Katayama, Maria Lucia Hirata MLH; Pereira, Glaucia Fernanda de Lima GFL; Gaburo-Júnior, Nelson N; Franco, Lucas Augusto Moyses LAM; Gouvêa, Ana Carolina Ribeiro Chaves de ACRC; Diz, Maria Del Pilar Estevez MDPE; Leite, Luiz Antonio Senna LAS; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2021

Variant appearance in text: BRCA2: 5645C>A; S1882X; rs80358785

PubMed Link: 34287479

Variant Present in the following documents:

• Main text
• cln-76-2837.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: BRCA2: 5645C>A; S1882*

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

---

Towards population-based genetic screenings for breast and ovarian cancer: A comprehensive review from economic evaluations to patient perspectives.

Breast (Edinburgh, Scotland)

Ficarazzi, Filomena F; Vecchi, Manuela M; Ferrari, Maurizio M; Pierotti, Marco A MA

Publication Date: 2021-08

Variant appearance in text: BRCA2: 5645C>A

PubMed Link: 34022715

Variant Present in the following documents:

• main.pdf

View BVdb publication page

---

BRCA1/2 Mutation Detection in the Tumor Tissue from Selected Polish Patients with Breast Cancer Using Next Generation Sequencing.

Genes

Szczerba, Ewelina E; Kamińska, Katarzyna K; Mierzwa, Tomasz T; Misiek, Marcin M; Kowalewski, Janusz J; Lewandowska, Marzena Anna MA

Publication Date: 2021-04-02

Variant appearance in text: BRCA2: 5645C>A; Ser1882Ter

PubMed Link: 33918338

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: BRCA2: 5645C>A; Ser1882*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2
• jamaoncol-e207987-s006.xlsx, sheet 2

View BVdb publication page

---

Treatment-emergent neuroendocrine prostate cancer with a germline BRCA2 mutation: identification of a candidate reversion mutation associated with platinum/PARP-inhibitor resistance.

Cold Spring Harbor Molecular Case Studies

Pandya, Deep D; Shah, Myra M; Kaplan, Fuat F; Martino, Candice C; Levy, Gillian G; Kazanjian, Mia M; Batter, Stephen S; Martignetti, John J; Frank, Richard C RC

Publication Date: 2021-02

Variant appearance in text: BRCA2: Ser1882*

PubMed Link: 33608381

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).

Plos One

Tokunaga, Hideki H; Iida, Keita K; Hozawa, Atsushi A; Ogishima, Soichi S; Watanabe, Yoh Y; Shigeta, Shogo S; Shimada, Muneaki M; Yamaguchi-Kabata, Yumi Y; Tadaka, Shu S; Katsuoka, Fumiki F; Ito, Shin S; Kumada, Kazuki K; Hamanaka, Yohei Y; Fuse, Nobuo N; Kinoshita, Kengo K; Yamamoto, Masayuki M; Yaegashi, Nobuo N; Yasuda, Jun J

Publication Date: 2021

Variant appearance in text: BRCA2: S1882X

PubMed Link: 33428613

Variant Present in the following documents:

• Main text
• pone.0236907.pdf

View BVdb publication page

---

The initial assessment of expert panel performance in core hospitals for cancer genomic medicine in Japan.

International Journal Of Clinical Oncology

Sunami, Kuniko K; Naito, Yoichi Y; Aimono, Eriko E; Amano, Toraji T; Ennishi, Daisuke D; Kage, Hidenori H; Kanai, Masashi M; Komine, Keigo K; Koyama, Takafumi T; Maeda, Takahiro T; Morita, Sachi S; Sakai, Daisuke D; Kohsaka, Shinji S; Tsuchihara, Katsuya K; Yoshino, Takayuki T

Publication Date: 2021-03

Variant appearance in text: BRCA2: S1882*

PubMed Link: 33385275

Variant Present in the following documents:

• 10147_2020_1844_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: BRCA2: S1882*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s004.xlsx, sheet 1

View BVdb publication page

---

A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Npj Genomic Medicine

Biswas, Kajal K; Lipton, Gary B GB; Stauffer, Stacey S; Sullivan, Teresa T; Cleveland, Linda L; Southon, Eileen E; Reid, Susan S; Magidson, Valentin V; Iversen, Edwin S ES; Sharan, Shyam K SK

Publication Date: 2020-12-08

Variant appearance in text: N/A

PubMed Link: 33293522

Variant Present in the following documents:

View BVdb publication page

---

Five Italian Families with Two Mutations in BRCA Genes.

Genes

Vietri, Maria Teresa MT; Caliendo, Gemma G; D'Elia, Giovanna G; Resse, Marianna M; Casamassimi, Amelia A; Minucci, Pellegrino Biagio PB; Dello Ioio, Concetta C; Cioffi, Michele M; Molinari, Anna Maria AM

Publication Date: 2020-12-03

Variant appearance in text: BRCA2: 5645C>A; Ser1882Ter

PubMed Link: 33287145

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).

Journal Of Medical Genetics

Hauke, Jan J; Harter, Philipp P; Ernst, Corinna C; Burges, Alexander A; Schmidt, Sandra S; Reuss, Alexander A; Borde, Julika J; De Gregorio, Nikolaus N; Dietrich, Dimo D; El-Balat, Ahmed A; Kayali, Mohamad M; Gevensleben, Heidrun H; Hilpert, Felix F; Altmüller, Janine J; Heimbach, André A; Meier, Werner W; Schoemig-Markiefka, Birgid B; Thiele, Holger H; Kimmig, Rainer R; Nürnberg, Peter P; Kast, Karin K; Richters, Lisa L; Sehouli, Jalid J; Schmutzler, Rita K RK; Hahnen, Eric E

Publication Date: 2022-03

Variant appearance in text: BRCA2: 5645C>A; Ser1882*

PubMed Link: 33273034

Variant Present in the following documents:

• jmedgenet-2020-107353supp001.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: N/A

PubMed Link: 33067557

Variant Present in the following documents:

View BVdb publication page

---

Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Bmc Cancer

Sun, Peng P; Li, Yue Y; Chao, Xue X; Li, Jibin J; Luo, Rongzhen R; Li, Mei M; He, Jiehua J

Publication Date: 2020-10-14

Variant appearance in text: BRCA2: S1882*

PubMed Link: 33054725

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Analysis of Circulating Tumor DNA to Predict Neoadjuvant Therapy Effectiveness and Breast Cancer Recurrence.

Journal Of Breast Cancer

Hao, Shuai S; Tian, Wuguo W; Zhao, Jianjie J; Chen, Yi Y; Zhang, Xiaohua X; Gao, Bo B; He, Yujun Y; Luo, Donglin D

Publication Date: 2020-08

Variant appearance in text: BRCA2: 5645C>A

PubMed Link: 32908788

Variant Present in the following documents:

• Main text
• jbc-23-373-s005.xls, sheet 1
• jbc-23-373.pdf

View BVdb publication page

---

Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study.

Genes

Foglietta, Jennifer J; Ludovini, Vienna V; Bianconi, Fortunato F; Pistola, Lorenza L; Reda, Maria Sole MS; Al-Refaie, Antonella A; Tofanetti, Francesca Romana FR; Mosconi, Annamaria A; Minenza, Elisa E; Anastasi, Paola P; Molica, Carmen C; Stracci, Fabrizio F; Roila, Fausto F

Publication Date: 2020-08-12

Variant appearance in text: BRCA2: 5645C>A; Ser1882Ter

PubMed Link: 32806537

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

International Journal Of Molecular Sciences

Brandão, Andreia A; Paulo, Paula P; Teixeira, Manuel R MR

Publication Date: 2020-07-16

Variant appearance in text: BRCA2: 5645C>A

PubMed Link: 32708810

Variant Present in the following documents:

• ijms-21-05036-s001.pdf

View BVdb publication page

---