Publications:

---

BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.

Plos One

Wei, Christina H CH; Shehayeb, Susan S; Santiago, Nicole Lugo NL; Kruper, Laura L; Han, Ernest E; Wang, Edward E; Cristea, Mihaela M; Rodriguez-Rodriguez, Lorna L; Yost, Susan E SE; Stewart, Daphne D

Publication Date: 2023

Variant appearance in text: BRCA1: 5266dup

PubMed Link: 37310942

Variant Present in the following documents:

• pone.0286998.s001.pdf

View BVdb publication page

---

Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Biomedicines

Cătană, Andreea A; Trifa, Adrian P AP; Achimas-Cadariu, Patriciu A PA; Bolba-Morar, Gabriela G; Lisencu, Carmen C; Kutasi, Eniko E; Chelaru, Vlad F VF; Muntean, Maximilian M; Martin, Daniela L DL; Antone, Nicoleta Z NZ; Fetica, Bogdan B; Pop, Florina F; Militaru, Mariela S MS

Publication Date: 2023-05-08

Variant appearance in text: BRCA1: 5266dupC; Gln1756Profs

PubMed Link: 37239058

Variant Present in the following documents:

• Main text
• biomedicines-11-01386.pdf

View BVdb publication page

---

New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples.

Scientific Reports

Gajda-Walczak, Aleksandra A; Potęga, Agnieszka A; Kowalczyk, Agata A; Sek, Slawomir S; Zięba, Sebastian S; Kowalik, Artur A; Kudelski, Andrzej A; Nowicka, Anna M AM

Publication Date: 2023-05-05

Variant appearance in text: BRCA1: 5266dup; Gln1756Profs*74

PubMed Link: 37147448

Variant Present in the following documents:

• Main text
• 41598_2023_Article_34588.pdf

View BVdb publication page

---

Global thyroid cancer incidence trend and age-period-cohort model analysis based on Global Burden of Disease Study from 1990 to 2019.

Frontiers In Endocrinology

Xu, Le L; Cao, Zhe Xu ZX; Weng, Xin X; Wang, Can Fei CF

Publication Date: 2023

Variant appearance in text: BRCA1: 5266dupC

PubMed Link: 37124740

Variant Present in the following documents:

• Main text
• fendo-14-1133098.pdf

View BVdb publication page

---

Diagnostic yield of genetic screening in a diverse, community-ascertained cohort.

Genome Medicine

Rao, Nandana D ND; Kaganovsky, Jailanie J; Malouf, Emily A EA; Coe, Sandy S; Huey, Jennifer J; Tsinajinne, Darwin D; Hassan, Sajida S; King, Kristine M KM; Fullerton, Stephanie M SM; Chen, Annie T AT; Shirts, Brian H BH

Publication Date: 2023-04-18

Variant appearance in text: BRCA1: 5266dupC

PubMed Link: 37069702

Variant Present in the following documents:

• Main text
• 13073_2023_Article_1174.pdf

View BVdb publication page

---

Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.

Genome Medicine

Nacer, Deborah F DF; Vallon-Christersson, Johan J; Nordborg, Nicklas N; Ehrencrona, Hans H; Kvist, Anders A; Borg, Åke Å; Staaf, Johan J

Publication Date: 2023-04-14

Variant appearance in text: BRCA1: 5266dup

PubMed Link: 37060015

Variant Present in the following documents:

• 13073_2023_1177_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

---

Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer.

International Journal Of Molecular Sciences

Savkova, Alina A; Gulyaeva, Lyudmila L; Gerasimov, Aleksey A; Krasil'nikov, Sergey S

Publication Date: 2023-04-04

Variant appearance in text: rs80357906

PubMed Link: 37047678

Variant Present in the following documents:

• Main text
• ijms-24-06705.pdf

View BVdb publication page

---

Assessment of pathogenic variation in gynecologic cancer genes in a national cohort.

Scientific Reports

Kotnik, Urška U; Maver, Aleš A; Peterlin, Borut B; Lovrecic, Luca L

Publication Date: 2023-03-31

Variant appearance in text: BRCA1: 5266dupC

PubMed Link: 37002323

Variant Present in the following documents:

• Main text
• 41598_2023_Article_32397.pdf

View BVdb publication page

---

Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.

Cancers

Goidescu, Iulian Gabriel IG; Nemeti, Georgiana G; Surcel, Mihai M; Caracostea, Gabriela G; Florian, Andreea Roxana AR; Cruciat, Gheorghe G; Staicu, Adelina A; Muresan, Daniel D; Goidescu, Cerasela C; Pintican, Roxana R; Eniu, Dan Tudor DT

Publication Date: 2023-03-22

Variant appearance in text: BRCA1: 5266dupC

PubMed Link: 36980780

Variant Present in the following documents:

• Main text
• cancers-15-01895.pdf

View BVdb publication page

---

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: rs80357906

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

---

Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer - single hospital experience.

Hereditary Cancer In Clinical Practice

Sivina, Elina E; Blumberga, Lubova L; Purkalne, Gunta G; Irmejs, Arvids A

Publication Date: 2023-03-16

Variant appearance in text: BRCA1: 5266dupC

PubMed Link: 36922883

Variant Present in the following documents:

• Main text
• 13053_2023_Article_249.pdf

View BVdb publication page

---

BRCA Mutations-The Achilles Heel of Breast, Ovarian and Other Epithelial Cancers.

International Journal Of Molecular Sciences

Loboda, Anna P AP; Adonin, Leonid S LS; Zvereva, Svetlana D SD; Guschin, Dmitri Y DY; Korneenko, Tatyana V TV; Telegina, Alexandra V AV; Kondratieva, Olga K OK; Frolova, Sofia E SE; Pestov, Nikolay B NB; Barlev, Nick A NA

Publication Date: 2023-03-05

Variant appearance in text: BRCA1: 5266dupC

PubMed Link: 36902416

Variant Present in the following documents:

• Main text
• ijms-24-04982.pdf

View BVdb publication page

---

The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.

Frontiers In Oncology

Mroczek, Magdalena M; Liu, Jakub J; Sypniewski, Mateusz M; Pieńkowski, Tadeusz T; Itrych, Bartosz B; Stojak, Joanna J; Pronobis-Szczylik, Bartosz B; Stępień, Maria M; Kaja, Elżbieta E; Dąbrowski, Maciej M; Suchocki, Tomasz T; Wojtaszewska, Marzena M; Zawadzki, Paweł P; Mach, Anna A; Sztromwasser, Paweł P; Król, Zbigniew J ZJ; Szyda, Joanna J; Dobosz, Paula P

Publication Date: 2023

Variant appearance in text: BRCA1: 5266dupC

PubMed Link: 36845707

Variant Present in the following documents:

• Main text
• Table_4.xlsx, sheet 1
• Table_3.xls, sheet 1
• fonc-13-1045817.pdf

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: BRCA1: 5266dupC; Gln1756Profs

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: BRCA1: 5266dupC

PubMed Link: 36753473

Variant Present in the following documents:

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

View BVdb publication page

---

BRCA1 deficiency in mature CD8+ T lymphocytes impairs antitumor immunity.

Journal For Immunotherapy Of Cancer

Wu, Bogang B; Qi, Leilei L; Chiang, Huai-Chin HC; Pan, Haihui H; Zhang, Xiaowen X; Greenbaum, Alexandra A; Stark, Elizabeth E; Wang, Li-Ju LJ; Chen, Yidong Y; Haddad, Bassem R BR; Clagett, Dionyssia D; Isaacs, Claudine C; Elledge, Richard R; Horvath, Anelia A; Hu, Yanfen Y; Li, Rong R

Publication Date: 2023-02

Variant appearance in text: BRCA1: 5266dupC

PubMed Link: 36731891

Variant Present in the following documents:

• jitc-2022-005852supp005.pdf

View BVdb publication page

---

Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology.

Frontiers In Oncology

Valentini, Virginia V; Silvestri, Valentina V; Bucalo, Agostino A; Conti, Giulia G; Karimi, Mina M; Di Francesco, Linda L; Pomati, Giulia G; Mezi, Silvia S; Cerbelli, Bruna B; Pignataro, Maria Gemma MG; Nicolussi, Arianna A; Coppa, Anna A; D'Amati, Giulia G; Giannini, Giuseppe G; Ottini, Laura L

Publication Date: 2022

Variant appearance in text: BRCA1: 5266dup; Gln1756fs

PubMed Link: 36686738

Variant Present in the following documents:

• Main text
• fonc-12-1092201.pdf

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: BRCA1: 5266dup

PubMed Link: 36647026

Variant Present in the following documents:

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

View BVdb publication page

---

Determination of BRCAness Phenotype in Breast Tumors for the Appointment of Neoadjuvant Chemotherapy Based on Platinum and Taxanes.

International Journal Of Molecular Sciences

Tsyganov, Matvey Mihajlovich MM; Ibragimova, Marina K MK; Garbukov, Evgeniy Y EY; Bragina, Olga D OD; Karchevskaya, Ariana A AA; Usynin, Evgeny A EA; Litvyakov, Nikolai V NV

Publication Date: 2022-12-22

Variant appearance in text: BRCA1: 5266dupC

PubMed Link: 36613648

Variant Present in the following documents:

• Main text
• ijms-24-00207.pdf

View BVdb publication page

---

Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.

Frontiers In Oncology

Andrikopoulou, Angeliki A; Zografos, Eleni E; Apostolidou, Kleoniki K; Kyriazoglou, Anastasios A; Papatheodoridi, Alksistis-Maria AM; Kaparelou, Maria M; Koutsoukos, Konstantinos K; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F

Publication Date: 2022

Variant appearance in text: BRCA1: 5266dupC; Gln1756Profs*74

PubMed Link: 36531003

Variant Present in the following documents:

• Main text
• fonc-12-1030786.pdf

View BVdb publication page

---

Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell

Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D

Publication Date: 2022-11-22

Variant appearance in text: BRCA1: 5266dupC

PubMed Link: 36455558

Variant Present in the following documents:

• NIHMS1852590-supplement-MMC2.xlsx, sheet 6
• nihms-1852590.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: BRCA1: 5266dupC

PubMed Link: 36385461

Variant Present in the following documents:

• Main text
• IJC-152-1159-s012.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 3
• IJC-152-1159.pdf
• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s011.xlsx, sheet 1
• IJC-152-1159-s011.xlsx, sheet 3
• IJC-152-1159-s010.xlsx, sheet 6
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s001.xlsx, sheet 1

View BVdb publication page

---

From the patient to the population: Use of genomics for population screening.

Frontiers In Genetics

Mighton, Chloe C; Shickh, Salma S; Aguda, Vernie V; Krishnapillai, Suvetha S; Adi-Wauran, Ella E; Bombard, Yvonne Y

Publication Date: 2022

Variant appearance in text: BRCA1: 5266dupC

PubMed Link: 36353115

Variant Present in the following documents:

• Main text
• fgene-13-893832.pdf

View BVdb publication page

---

Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among <i>BRCA1/BRCA2</i> Mutation Carriers.

The Breast Journal

Faermann, Renata R; Friedman, Eitan E; Kaidar-Person, Orit O; Weidenfeld, Jonathan J; Brodsky, Malka M; Shalmon, Anat A; Halshtok Neiman, Osnat O; Gotlieb, Michael M; Yagil, Yael Y; Samoocha, David D; Madorsky Feldman, Dana D; Sklair-Levy, Miri M

Publication Date: 2022

Variant appearance in text: BRCA1: 5266dupC; Gln1756Profs

PubMed Link: 36349178

Variant Present in the following documents:

• TBJ2022-4317693.pdf

View BVdb publication page

---

NBN pathogenic germline variants are associated with pan-cancer susceptibility and in vitro DNA damage response defects.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Belhadj, Sami S; Khurram, Aliya A; Bandlamudi, Chaitanya C; Palou-Márquez, Guillermo G; Ravichandran, Vignesh V; Steinsnyder, Zoe Z; Wildman, Temima T; Catchings, Amanda A; Kemel, Yelena Y; Mukherjee, Semanti S; Fesko, Benjamin B; Arora, Kanika K; Mehine, Miika M; Dandiker, Sita S; Izhar, Aalin A; Petrini, John J; Domchek, Susan S; Nathanson, Katherine L KL; Brower, Jamie J; Couch, Fergus F; Stadler, Zsofia Z; Robson, Mark M; Walsh, Michael M; Vijai, Joseph J; Berger, Michael M; Supek, Fran F; Karam, Rachid R; Topka, Sabine S; Offit, Kenneth K

Publication Date: 2022-11-08

Variant appearance in text: BRCA1: Q1756Pfs*74

PubMed Link: 36346689

Variant Present in the following documents:

• ccr-22-1703_supplementary_tables_s1-s11_suppts1-ts11.xlsx, sheet 5

View BVdb publication page

---

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: BRCA1: 5266dupC; Q1756fs

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM10_ESM.xlsx, sheet 2
• 41467_2022_34523_MOESM10_ESM.xlsx, sheet 3
• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4
• 41467_2022_34523_MOESM14_ESM.xlsx, sheet 1
• 41467_2022_34523_MOESM3_ESM.xlsx, sheet 2
• 41467_2022_34523_MOESM6_ESM.xlsx, sheet 1
• 41467_2022_34523_MOESM14_ESM.xlsx, sheet 3
• 41467_2022_34523_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Heterogeneity of the cancer cell line metabolic landscape.

Molecular Systems Biology

Shorthouse, David D; Bradley, Jenna J; Critchlow, Susan E SE; Bendtsen, Claus C; Hall, Benjamin A BA

Publication Date: 2022-11

Variant appearance in text: BRCA1: 5266dupC; Gln1756Profs*74

PubMed Link: 36321551

Variant Present in the following documents:

• MSB-18-e11006-s010.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: BRCA1: 5266dupC; Gln1756fs

PubMed Link: 36203093

Variant Present in the following documents:

• 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14

View BVdb publication page

---

Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of "Second Hit" in Germline BRCA1-Associated Pancreatic Ductal Adenocarcinoma.

Molecular Diagnosis & Therapy

Zheng-Lin, Binbin B; Rainone, Michael M; Varghese, Anna M AM; Yu, Kenneth H KH; Park, Wungki W; Berger, Michael M; Mehine, Miika M; Chou, Joanne J; Capanu, Marinela M; Mandelker, Diana D; Stadler, Zsofia K ZK; Birsoy, Ozge O; Jairam, Sowmya S; Yang, Ciyu C; Li, Yirong Y; Wong, Donna D; Benhamida, Jamal K JK; Ladanyi, Marc M; Zhang, Liying L; O'Reilly, Eileen M EM

Publication Date: 2022-11

Variant appearance in text: BRCA1: 5266dupC; Gln1756Profs*74

PubMed Link: 36178671

Variant Present in the following documents:

• Main text
• 40291_2022_Article_614.pdf

View BVdb publication page

---

Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina

Revista De La Facultad De Ciencias Medicas (Cordoba, Argentina)

Martin, Claudia Alejandra CA; Suárez Villasmil, Lourdes L; Sembaj, Adela A; Gomez Balangione, Fabian F; Zunino, Silvia S; Montes, Cecilia Del Carmen CDC; Borello, Adriana A; Del Castillo, Andres A; Zeballos, Maximiliano M; Rossi, Norma Teresa NT

Publication Date: 2022-09-16

Variant appearance in text: BRCA1: 5266dupC; Gln1756Profs*74

PubMed Link: 36149077

Variant Present in the following documents:

• 1853-0605-79-3-228.pdf

View BVdb publication page

---

Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer.

Frontiers In Oncology

Megid, Thais Baccili Cury TBC; Barros-Filho, Mateus C MC; Pisani, Janina Pontes JP; Achatz, Maria Isabel MI

Publication Date: 2022

Variant appearance in text: BRCA1: 5266dupC; Gln1756fs

PubMed Link: 36003761

Variant Present in the following documents:

• Main text
• fonc-12-873395.pdf

View BVdb publication page

---

Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.

Journal Of Applied Genetics

Jankowski, Maciej M; Daca-Roszak, Patrycja P; Obracht-Prondzyński, Cezary C; Płoski, Rafał R; Lipska-Ziętkiewicz, Beata S BS; Ziętkiewicz, Ewa E

Publication Date: 2022-12

Variant appearance in text: BRCA1: 5266dupC

PubMed Link: 35971028

Variant Present in the following documents:

• Main text
• 13353_2022_Article_713.pdf

View BVdb publication page

---

Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.

Jco Global Oncology

Ossa Gomez, Carlos Andrés CA; Achatz, Maria Isabel MI; Hurtado, Mabel M; Sanabria-Salas, María Carolina MC; Sullcahuaman, Yasser Y; Chávarri-Guerra, Yanin Y; Dutil, Julie J; Nielsen, Sarah M SM; Esplin, Edward D ED; Michalski, Scott T ST; Bristow, Sara L SL; Hatchell, Kathryn E KE; Nussbaum, Robert L RL; Pineda-Alvarez, Daniel E DE; Ashton-Prolla, Patricia P

Publication Date: 2022-07

Variant appearance in text: BRCA1: 5266dupC; Gln1756Profs*74

PubMed Link: 35867948

Variant Present in the following documents:

• go-8-e2200104.pdf

View BVdb publication page

---