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: BRCA2: 5239_5240insT; Asn1747fs; rs80359500

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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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: BRCA2: 5239_5240insT; Asn1747fs

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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Genetic predisposition to male breast cancer in Poland.

Bmc Cancer

Szwiec, Marek M; Tomiczek-Szwiec, Joanna J; Kluźniak, Wojciech W; Wokołorczyk, Dominika D; Osowiecka, Karolina K; Sibilski, Robert R; Wachowiak, Małgorzata M; Gronwald, Jacek J; Gronwald, Helena H; Lubiński, Jan J; Cybulski, Cezary C; Narod, Steven A SA; Huzarski, Tomasz T

Publication Date: 2021-08-30

Variant appearance in text: BRCA2: 5239_5240insT

PubMed Link: 34461861

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8718.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: BRCA2: 5239_5240insT; Asn1747Ilefs

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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Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Cancers

Santonocito, Concetta C; Rizza, Roberta R; Paris, Ida I; Marchis, Laura De L; Paolillo, Carmela C; Tiberi, Giordana G; Scambia, Giovanni G; Capoluongo, Ettore E

Publication Date: 2020-05-19

Variant appearance in text: BRCA2: 5239_5240insT; rs80359500

PubMed Link: 32438681

Variant Present in the following documents:

• Main text
• cancers-12-01286.pdf

View BVdb publication page

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BRCA2 genemutation, c.2808_2811delACAA (p.Ala938Profs), in malebreastcancer - clinicopathologicalanalysisbased on a case report.

Przeglad Menopauzalny = Menopause Review

Huszno, Joanna J; Fiszer-Kierzkowska, Anna A; Pigłowski, Wojciech W; Mazur, Magdalena M

Publication Date: 2019-12

Variant appearance in text: BRCA2: 5239_5240insT

PubMed Link: 32132887

Variant Present in the following documents:

• Main text
• MR-18-93120.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA2: 5239_5240insT; Asn1747Ilefs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Lost in translation: returning germline genetic results in genome-scale cancer research.

Genome Medicine

Johns, Amber L AL; McKay, Skye H SH; Humphris, Jeremy L JL; Pinese, Mark M; Chantrill, Lorraine A LA; Mead, R Scott RS; Tucker, Katherine K; Andrews, Lesley L; Goodwin, Annabel A; Leonard, Conrad C; High, Hilda A HA; Nones, Katia K; Patch, Ann-Marie AM; Merrett, Neil D ND; Pavlakis, Nick N; Kassahn, Karin S KS; Samra, Jaswinder S JS; Miller, David K DK; Chang, David K DK; Pajic, Marina M; , ; Pearson, John V JV; Grimmond, Sean M SM; Waddell, Nicola N; Zeps, Nikolajs N; Gill, Anthony J AJ; Biankin, Andrew V AV

Publication Date: 2017-04-28

Variant appearance in text: BRCA2: 5239insT

PubMed Link: 28454591

Variant Present in the following documents:

• Main text
• 13073_2017_Article_430.pdf

View BVdb publication page

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PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.

Bmc Medical Genomics

Kluska, Anna A; Balabas, Aneta A; Piatkowska, Magdalena M; Czarny, Katarzyna K; Paczkowska, Katarzyna K; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J

Publication Date: 2017-03-09

Variant appearance in text: BRCA2: 5239insT

PubMed Link: 28279176

Variant Present in the following documents:

• Main text
• 12920_2017_Article_251.pdf

View BVdb publication page

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Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.

Hereditary Cancer In Clinical Practice

Wojcik, P P; Jasiowka, M M; Strycharz, E E; Sobol, M M; Hodorowicz-Zaniewska, D D; Skotnicki, P P; Byrski, T T; Blecharz, P P; Marczyk, E E; Cedrych, I I; Jakubowicz, J J; Lubiński, J J; Sopik, V V; Narod, S S; Pierzchalski, P P

Publication Date: 2016

Variant appearance in text: BRCA2: 5239_5240insT

PubMed Link: 26843898

Variant Present in the following documents:

• Main text

View BVdb publication page

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BRCA1 founder mutations do not contribute to increased risk of gastric cancer in the Polish population.

Hereditary Cancer In Clinical Practice

Ławniczak, Małgorzata M; Jakubowska, Anna A; Białek, Andrzej A; Lubiński, Jan J; Jaworska-Bieniek, Katarzyna K; Kaczmarek, Katarzyna K; Starzyńska, Teresa T

Publication Date: 2016

Variant appearance in text: BRCA2: 5239_5240insT

PubMed Link: 26779294

Variant Present in the following documents:

• Main text
• 13053_2015_Article_43.pdf

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Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers.

Plos One

Domagala, Pawel P; Jakubowska, Anna A; Jaworska-Bieniek, Katarzyna K; Kaczmarek, Katarzyna K; Durda, Katarzyna K; Kurlapska, Agnieszka A; Cybulski, Cezary C; Lubinski, Jan J

Publication Date: 2015

Variant appearance in text: BRCA2: 5239_5240insT

PubMed Link: 26083025

Variant Present in the following documents:

• Main text

View BVdb publication page

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Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Ebiomedicine

Foley, Samantha B SB; Rios, Jonathan J JJ; Mgbemena, Victoria E VE; Robinson, Linda S LS; Hampel, Heather L HL; Toland, Amanda E AE; Durham, Leslie L; Ross, Theodora S TS

Publication Date: 2015-01

Variant appearance in text: N/A

PubMed Link: 26023681

Variant Present in the following documents:

View BVdb publication page

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New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Bmc Medical Genomics

Kluska, Anna A; Balabas, Aneta A; Paziewska, Agnieszka A; Kulecka, Maria M; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J

Publication Date: 2015-05-07

Variant appearance in text: BRCA2: 5239insT

PubMed Link: 25948282

Variant Present in the following documents:

• Main text
• 12920_2015_Article_92.pdf

View BVdb publication page

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Returning individual research results for genome sequences of pancreatic cancer.

Genome Medicine

Johns, Amber L AL; Miller, David K DK; Simpson, Skye H SH; Gill, Anthony J AJ; Kassahn, Karin S KS; Humphris, Jeremy L JL; Samra, Jaswinder S JS; Tucker, Katherine K; Andrews, Lesley L; Chang, David K DK; Waddell, Nicola N; Pajic, Marina M; Pearson, John V JV; Grimmond, Sean M SM; Biankin, Andrew V AV; Zeps, Nikolajs N

Publication Date: 2014

Variant appearance in text: BRCA2: 5239insT

PubMed Link: 24963353

Variant Present in the following documents:

• Main text
• gm558.pdf

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Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer.

Plos One

Pern, Franziska F; Bogdanova, Natalia N; Schürmann, Peter P; Lin, Min M; Ay, Aysun A; Länger, Florian F; Hillemanns, Peter P; Christiansen, Hans H; Park-Simon, Tjoung-Won TW; Dörk, Thilo T

Publication Date: 2012

Variant appearance in text: rs80359500

PubMed Link: 23110154

Variant Present in the following documents:

• Main text
• pone.0047993.pdf

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