Publications:

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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: 2800C>T; Gln934Ter; rs80357223

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: BRCA1: 2800C>T; Gln934Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: BRCA1: 2800C>T

PubMed Link: 36753473

Variant Present in the following documents:

• Main text
• pone.0278010.pdf
• pone.0278010.s002.xlsx, sheet 1

View BVdb publication page

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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: 2800C>T

PubMed Link: 36385461

Variant Present in the following documents:

• Main text
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159-s005.xlsx, sheet 3
• IJC-152-1159.pdf
• IJC-152-1159-s001.xlsx, sheet 1
• IJC-152-1159-s011.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 4
• IJC-152-1159-s007.xlsx, sheet 1
• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s011.xlsx, sheet 3

View BVdb publication page

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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: BRCA1: 2800C>T; Gln934X

PubMed Link: 36203093

Variant Present in the following documents:

• 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14

View BVdb publication page

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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: BRCA1: 2800C>T; Gln934Ter

PubMed Link: 36045058

Variant Present in the following documents:

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

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: BRCA1: 2800C>T; Q934*; rs80357223

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Breast (Edinburgh, Scotland)

Bisgin, Atil A; Sag, Sebnem Ozemri SO; Dogan, Muhammet E ME; Yildirim, Mahmut S MS; Gumus, Aydeniz Aydin AA; Akkus, Nejmiye N; Balasar, Ozgur O; Durmaz, Ceren D CD; Eroz, Recep R; Altiner, Sule S; Alemdar, Adem A; Aliyeva, Lamia L; Boga, Ibrahim I; Cam, Fethi S FS; Dogan, Berkcan B; Esbah, Onur O; Hanta, Abdullah A; Mujde, Cem C; Ornek, Cemre C; Ozer, Sinem S; Rencuzogullari, Cagla C; Sonmezler, Ozge O; Bozdogan, Sevcan Tug ST; Dundar, Munis M; Temel, Sehime G SG

Publication Date: 2022-10

Variant appearance in text: BRCA1: Q934*

PubMed Link: 35753294

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

View BVdb publication page

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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: BRCA1: 2800C>T

PubMed Link: 35741847

Variant Present in the following documents:

• Main text
• genes-13-01085.pdf

View BVdb publication page

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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: BRCA1: 2800C>T; Gln934Ter; rs80357223

PubMed Link: 35595529

Variant Present in the following documents:

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

View BVdb publication page

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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: BRCA1: Q934X

PubMed Link: 35557031

Variant Present in the following documents:

• jgo-33-e46.pdf

View BVdb publication page

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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: 2800C>T; Gln934*; rs80357223

PubMed Link: 35420638

Variant Present in the following documents:

• jamaoncol-e220476-s001.pdf

View BVdb publication page

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Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?

International Journal Of Oncology

Lavoro, Alessandro A; Scalisi, Aurora A; Candido, Saverio S; Zanghì, Guido Nicola GN; Rizzo, Roberta R; Gattuso, Giuseppe G; Caruso, Giuseppe G; Libra, Massimo M; Falzone, Luca L

Publication Date: 2022-05

Variant appearance in text: BRCA1: Q934X

PubMed Link: 35383859

Variant Present in the following documents:

• Main text
• ijo-60-05-05349.pdf

View BVdb publication page

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Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science

Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K

Publication Date: 2022-04

Variant appearance in text: BRCA1: 2800C>T; Q934*; rs80357223

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

Bmc Cancer

ElBiad, Oubaida O; Laraqui, Abdelilah A; El Boukhrissi, Fatima F; Mounjid, Chaimaa C; Lamsisi, Maryame M; Bajjou, Tahar T; Elannaz, Hicham H; Lahlou, Amine Idriss AI; Kouach, Jaouad J; Benchekroune, Khadija K; Oukabli, Mohammed M; Chahdi, Hafsa H; Ennaji, Moulay Mustapha MM; Tanz, Rachid R; Sbitti, Yassir Y; Ichou, Mohammed M; Ennibi, Khalid K; Badaoui, Bouabid B; Sekhsokh, Yassine Y

Publication Date: 2022-02-25

Variant appearance in text: BRCA1: 2800C>T; Gln934Ter

PubMed Link: 35216584

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9181.pdf

View BVdb publication page

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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer

Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T

Publication Date: 2021-12-09

Variant appearance in text: BRCA1: 2800C>T; Gln934Ter

PubMed Link: 34887416

Variant Present in the following documents:

• 41523_2021_360_MOESM1_ESM.pdf

View BVdb publication page

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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer

Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T

Publication Date: 2021-12-09

Variant appearance in text: BRCA1: 2800C>T; Gln934Ter

PubMed Link: 34887416

Variant Present in the following documents:

• 41523_2021_360_MOESM1_ESM.pdf

View BVdb publication page

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Prognostic Prediction of BRCA Mutations by 18F-FDG PET/CT SUVmax in Breast Cancer

Molecular Imaging And Radionuclide Therapy

Özdemir, Semra S; Sılan, Fatma F; Akgün, Mehmet Yılmaz MY; Aracı, Nilgün N; Çırpan, İsmail İ; Koç Öztürk, Fulya F; Özdemir, Öztürk Ö

Publication Date: 2021-10-15

Variant appearance in text: BRCA1: 2800C>T; Q934*

PubMed Link: 34658299

Variant Present in the following documents:

• MIRT-30-158.pdf

View BVdb publication page

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Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location.

Genes

Sekine, Masayuki M; Nishino, Koji K; Enomoto, Takayuki T

Publication Date: 2021-07-08

Variant appearance in text: BRCA1: Q934X

PubMed Link: 34356066

Variant Present in the following documents:

• Main text
• genes-12-01050.pdf

View BVdb publication page

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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: 2800C>T; Gln934Ter; rs80357223

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: BRCA1: Q934*

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7

View BVdb publication page

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Clinical Utility of Next-Generation Sequencing-Based Panel Testing under the Universal Health-Care System in Japan: A Retrospective Analysis at a Single University Hospital.

Cancers

Inagaki, Chiaki C; Maeda, Daichi D; Hatake, Kazue K; Sato, Yuki Y; Hashimoto, Kae K; Sakai, Daisuke D; Yachida, Shinichi S; Nonomura, Norio N; Satoh, Taroh T

Publication Date: 2021-03-05

Variant appearance in text: BRCA1: 2800C>T; rs80357223

PubMed Link: 33807840

Variant Present in the following documents:

• Main text
• cancers-13-01121.pdf

View BVdb publication page

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Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC.

Hereditary Cancer In Clinical Practice

Xu, Zheyuan Z; Wang, Yang Y; Wang, Lan L; Cui, Fengxian F; Zhang, Libin L; Xiong, Jian J; Peng, Hao H

Publication Date: 2021-02-09

Variant appearance in text: BRCA1: Q934*

PubMed Link: 33563323

Variant Present in the following documents:

• Main text
• 13053_2021_Article_174.pdf

View BVdb publication page

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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: BRCA1: Q934X

PubMed Link: 33428613

Variant Present in the following documents:

• Main text
• pone.0236907.pdf

View BVdb publication page

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Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.

Journal Of Gynecologic Oncology

Ha, Hyeong In HI; Ryu, Jin Sun JS; Shim, Hyoeun H; Kong, Sun Young SY; Lim, Myong Cheol MC

Publication Date: 2020-11

Variant appearance in text: BRCA1: 2800C>T

PubMed Link: 33078592

Variant Present in the following documents:

• jgo-31-e83-s009.xls, sheet 1
• jgo-31-e83-s007.xls, sheet 1
• jgo-31-e83-s008.xls, sheet 1

View BVdb publication page

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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: BRCA1: Q934X

PubMed Link: 33067557

Variant Present in the following documents:

• 42003_2020_1301_MOESM1_ESM.pdf

View BVdb publication page

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Hsa-miR-155-5p Up-Regulation in Breast Cancer and Its Relevance for Treatment With Poly[ADP-Ribose] Polymerase 1 (PARP-1) Inhibitors.

Frontiers In Oncology

Pasculli, Barbara B; Barbano, Raffaela R; Fontana, Andrea A; Biagini, Tommaso T; Di Viesti, Maria Pia MP; Rendina, Michelina M; Valori, Vanna Maria VM; Morritti, Maria M; Bravaccini, Sara S; Ravaioli, Sara S; Maiello, Evaristo E; Graziano, Paolo P; Murgo, Roberto R; Copetti, Massimiliano M; Mazza, Tommaso T; Fazio, Vito Michele VM; Esteller, Manel M; Parrella, Paola P

Publication Date: 2020

Variant appearance in text: BRCA1: 2800C>T; Gln934Ter

PubMed Link: 32903519

Variant Present in the following documents:

• Table_1.xlsx, sheet 7

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: BRCA1: Q934*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Actionable gene alterations in an Asian population with triple-negative breast cancer.

Jco Precision Oncology

Nagahashi, Masayuki M; Ling, YiWei Y; Hayashida, Tetsu T; Kitagawa, Yuko Y; Futamura, Manabu M; Yoshida, Kazuhiro K; Kuwayama, Takashi T; Nakamura, Seigo S; Toshikawa, Chie C; Yamauchi, Hideko H; Yamauchi, Teruo T; Kaneko, Koji K; Kanbayashi, Chizuko C; Sato, Nobuaki N; Miyoshi, Yasuo Y; Tsuchida, Junko J; Nakajima, Masato M; Shimada, Yoshifumi Y; Ichikawa, Hiroshi H; Lyle, Stephen S; Takabe, Kazuaki K; Okuda, Shujiro S; Wakai, Toshifumi T

Publication Date: 2018

Variant appearance in text: BRCA1: Q934X

PubMed Link: 32529167

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study.

Cancer Science

Yoshihara, Kosuke K; Enomoto, Takayuki T; Aoki, Daisuke D; Watanabe, Yoh Y; Kigawa, Junzo J; Takeshima, Nobuhiro N; Inomata, Hyoe H; Hattori, Kana K; Jinushi, Masahisa M; Tsuda, Hitoshi H; Sugiyama, Toru T

Publication Date: 2020-09

Variant appearance in text: BRCA1: Q934*

PubMed Link: 32495382

Variant Present in the following documents:

• CAS-111-3350.pdf

View BVdb publication page

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Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA1: 2800C>T; Gln934X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Clinical significance of TP53 variants as possible secondary findings in tumor-only next-generation sequencing.

Journal Of Human Genetics

Yamamoto, Yoshihiro Y; Kanai, Masashi M; Kou, Tadayuki T; Sugiyama, Aiko A; Nakamura, Eijiro E; Miyake, Hidehiko H; Yamada, Takahiro T; Nishigaki, Masakazu M; Kondo, Tomohiro T; Murakami, Hiromi H; Torishima, Masako M; Matsumoto, Shigemi S; Kosugi, Shinji S; Muto, Manabu M

Publication Date: 2020-01

Variant appearance in text: BRCA1: 2800C>T; Q934*

PubMed Link: 31628423

Variant Present in the following documents:

• Main text
• 10038_2019_681_MOESM5_ESM.xlsx, sheet 1

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Prevalence and clinical significance of pathogenic germline BRCA1/2 mutations in Chinese non-small cell lung cancer patients.

Cancer Biology & Medicine

Hu, Xingsheng X; Yang, Dongyong D; Li, Yalun Y; Li, Li L; Wang, Yan Y; Chen, Peng P; Xu, Song S; Pu, Xingxiang X; Zhu, Wei W; Deng, Pengbo P; Ye, Junyi J; Zhang, Hanhan H; Lizaso, Analyn A; Liu, Hao H; Mao, Xinru X; Huang, Hai H; Chu, Qian Q; Hu, Chengping C

Publication Date: 2019-08

Variant appearance in text: BRCA1: Q934*

PubMed Link: 31565484

Variant Present in the following documents:

• cbm-16-3-556.pdf

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Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation BRCA1 L63X.

Oncotarget

Yoshida, Reiko R; Watanabe, Chie C; Yokoyama, Shiro S; Inuzuka, Mayuko M; Yotsumoto, Junko J; Arai, Masami M; Nakamura, Seigo S; ,

Publication Date: 2019-05-14

Variant appearance in text: BRCA1: 2800C>T; Q934X

PubMed Link: 31143373

Variant Present in the following documents:

• Main text
• oncotarget-10-3276.pdf

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: BRCA1: Q934*

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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BRCA1/BRCA2 mutations in Japanese women with ductal carcinoma in situ.

Molecular Genetics & Genomic Medicine

Liu, Yan Y; Ide, Yoshimi Y; Inuzuka, Mayuko M; Tazawa, Sakiko S; Kanada, Yoko Y; Matsunaga, Yuki Y; Kuwayama, Takashi T; Sawada, Terumasa T; Akashi-Tanaka, Sadako S; Nakamura, Seigo S

Publication Date: 2019-03

Variant appearance in text: BRCA1: Q934X

PubMed Link: 30652428

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: BRCA1: Gln934*

PubMed Link: 30287823

Variant Present in the following documents:

• Main text
• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1

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High rate of occult cancer found in prophylactic mastectomy specimens despite thorough presurgical assessment with MRI and ultrasound: findings from the Hereditary Breast and Ovarian Cancer Registration 2016 in Japan.

Breast Cancer Research And Treatment

Yamauchi, Hideko H; Okawa, Megumi M; Yokoyama, Shiro S; Nakagawa, Chizuko C; Yoshida, Reiko R; Suzuki, Koyu K; Nakamura, Seigo S; Arai, Masami M

Publication Date: 2018-12

Variant appearance in text: BRCA1: Q934X

PubMed Link: 30203341

Variant Present in the following documents:

• Main text
• 10549_2018_Article_4953.pdf

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: BRCA1: Q934*

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Increased centrosome number in BRCA-related breast cancer specimens determined by immunofluorescence analysis.

Cancer Science

Watanabe, Gou G; Chiba, Natsuko N; Nomizu, Tadashi T; Furuta, Akihiko A; Sato, Kaolu K; Miyashita, Minoru M; Tada, Hiroshi H; Suzuki, Akihiko A; Ohuchi, Noriaki N; Ishida, Takanori T

Publication Date: 2018-06

Variant appearance in text: BRCA1: Q934X

PubMed Link: 29601120

Variant Present in the following documents:

• CAS-109-2027-s001.xlsx, sheet 1

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Simultaneous detection of genetic and copy number alterations in BRCA1/2 genes.

Oncotarget

Hirotsu, Yosuke Y; Ooka, Yoshihiko Y; Sakamoto, Ikuko I; Nakagomi, Hiroshi H; Omata, Masao M

Publication Date: 2017-12-29

Variant appearance in text: BRCA1: Q934X

PubMed Link: 29383094

Variant Present in the following documents:

• Main text

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Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.

Oncotarget

Hirasawa, Akira A; Imoto, Issei I; Naruto, Takuya T; Akahane, Tomoko T; Yamagami, Wataru W; Nomura, Hiroyuki H; Masuda, Kiyoshi K; Susumu, Nobuyuki N; Tsuda, Hitoshi H; Aoki, Daisuke D

Publication Date: 2017-12-22

Variant appearance in text: BRCA1: 2800C>T

PubMed Link: 29348823

Variant Present in the following documents:

• Main text

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Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.

Cancer Science

Nakagomi, Hiroshi H; Mochizuki, Hitoshi H; Inoue, Masayuki M; Hirotsu, Yosuke Y; Amemiya, Kenji K; Sakamoto, Ikuko I; Nakagomi, Satoko S; Kubota, Takeo T; Omata, Masao M

Publication Date: 2018-02

Variant appearance in text: BRCA1: 2800C>T; Gln934Ter

PubMed Link: 29215753

Variant Present in the following documents:

• Main text

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Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.

Journal Of Human Genetics

Arai, Masami M; Yokoyama, Shiro S; Watanabe, Chie C; Yoshida, Reiko R; Kita, Mizuho M; Okawa, Megumi M; Sakurai, Akihiro A; Sekine, Masayuki M; Yotsumoto, Junko J; Nomura, Hiroyuki H; Akama, Yoshinori Y; Inuzuka, Mayuko M; Nomizu, Tadashi T; Enomoto, Takayuki T; Nakamura, Seigo S

Publication Date: 2018-04

Variant appearance in text: BRCA1: 2800C>T; Gln934Ter

PubMed Link: 29176636

Variant Present in the following documents:

• Main text
• 10038_2017_Article_355.pdf

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Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.

Journal Of Human Genetics

Arai, Masami M; Yokoyama, Shiro S; Watanabe, Chie C; Yoshida, Reiko R; Kita, Mizuho M; Okawa, Megumi M; Sakurai, Akihiro A; Sekine, Masayuki M; Yotsumoto, Junko J; Nomura, Hiroyuki H; Akama, Yoshinori Y; Inuzuka, Mayuko M; Nomizu, Tadashi T; Enomoto, Takayuki T; Nakamura, Seigo S

Publication Date: 2018-04

Variant appearance in text: BRCA1: 2800C>T; Gln934Ter

PubMed Link: 29176636

Variant Present in the following documents:

• Main text
• 10038_2017_Article_355.pdf

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Mutations in context: implications of BRCA testing in diverse populations.

Familial Cancer

Felix, Gabriela E S GES; Zheng, Yonglan Y; Olopade, Olufunmilayo I OI

Publication Date: 2018-10

Variant appearance in text: BRCA1: 2800C>T; Q934X

PubMed Link: 28918466

Variant Present in the following documents:

• Main text

View BVdb publication page

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