Publications:

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InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer

Publication Date: 2022-10

Variant appearance in text: HR: Gly396Asp

PubMed Link: 36260238

Variant Present in the following documents:

• 10689_2022_Article_312.pdf

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Novel Insights From the Germline Landscape of Breast Cancer in Brazil.

Frontiers In Oncology

Barbalho, Daniel D; Sandoval, Renata R; Santos, Erika E; Pisani, Janina J; Quirino, Carla C; Garicochea, Bernardo B; Rossi, Benedito B; Achatz, Maria Isabel MI

Publication Date: 2021

Variant appearance in text: HR: 1187G>A; Gly396Asp

PubMed Link: 35155181

Variant Present in the following documents:

• Main text
• fonc-11-743231.pdf

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Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Cancers

Kondrashova, Olga O; Shamsani, Jannah J; O'Mara, Tracy A TA; Newell, Felicity F; McCart Reed, Amy E AE; Lakhani, Sunil R SR; Kirk, Judy J; Pearson, John V JV; Waddell, Nicola N; Spurdle, Amanda B AB

Publication Date: 2021-04-07

Variant appearance in text: HR: 1187G>A; Gly396Asp

PubMed Link: 33917078

Variant Present in the following documents:

• Main text

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Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.

Plos One

Sandoval, Renata Lazari RL; Leite, Ana Carolina Rathsam ACR; Barbalho, Daniel Meirelles DM; Assad, Daniele Xavier DX; Barroso, Romualdo R; Polidorio, Natalia N; Dos Anjos, Carlos Henrique CH; de Miranda, Andréa Discaciati AD; Ferreira, Ana Carolina Salles de Mendonça ACSM; Fernandes, Gustavo Dos Santos GDS; Achatz, Maria Isabel MI

Publication Date: 2021

Variant appearance in text: HR: 1187G>A; Gly396Asp

PubMed Link: 33606809

Variant Present in the following documents:

• Main text
• pone.0247363.pdf

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Paired tumor sequencing and germline testing in breast cancer management: An experience of a single academic center.

Cancer Reports (Hoboken, N.J.)

Elliott, Elizabeth E; Speare, Virginia V; Coggan, James J; Espenschied, Carin C; LaDuca, Holly H; Yussuf, Amal F AF; Burgess, Kelly K; Gray, Phillip P; Cobleigh, Melody M; Rao, Ruta R; Patel, Jeremy J; Kuzel, Timothy T; Buckingham, Lela E LE; Usha, Lydia L

Publication Date: 2020-12

Variant appearance in text: HR: G396D

PubMed Link: 32881420

Variant Present in the following documents:

• CNR2-3-e1287-s001.pdf

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Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer.

Cancer Science

Ryu, Jin-Sun JS; Lee, Hye-Young HY; Cho, Eun Hae EH; Yoon, Kyong-Ah KA; Kim, Min-Kyeong MK; Joo, Jungnam J; Lee, Eun-Sook ES; Kang, Han-Sung HS; Lee, Seeyoun S; Lee, Dong Ock DO; Lim, Myong Cheol MC; Kong, Sun-Young SY

Publication Date: 2020-10

Variant appearance in text: HR: Gly396Asp

PubMed Link: 32761968

Variant Present in the following documents:

• Main text
• CAS-111-3912.pdf

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Molecular prognostic factors in small-intestinal neuroendocrine tumours.

Endocrine Connections

Samsom, K G KG; van Veenendaal, L M LM; Valk, G D GD; Vriens, M R MR; Tesselaar, M E T MET; van den Berg, J G JG

Publication Date: 2019-07

Variant appearance in text: HR: Gly396Asp

PubMed Link: 31189127

Variant Present in the following documents:

• Main text
• EC-19-0206.pdf

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Gastrointestinal tract cancers: Genetics, heritability and germ line mutations.

Oncology Letters

Lv, Xiao-Peng XP

Publication Date: 2017-03

Variant appearance in text: HR: G396D

PubMed Link: 28454282

Variant Present in the following documents:

• Main text
• ol-13-03-1499.pdf

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Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Win, Aung Ko AK; Jenkins, Mark A MA; Dowty, James G JG; Antoniou, Antonis C AC; Lee, Andrew A; Giles, Graham G GG; Buchanan, Daniel D DD; Clendenning, Mark M; Rosty, Christophe C; Ahnen, Dennis J DJ; Thibodeau, Stephen N SN; Casey, Graham G; Gallinger, Steven S; Le Marchand, Loïc L; Haile, Robert W RW; Potter, John D JD; Zheng, Yingye Y; Lindor, Noralane M NM; Newcomb, Polly A PA; Hopper, John L JL; MacInnis, Robert J RJ

Publication Date: 2017-03

Variant appearance in text: HR: 1187G>A; Gly396Asp

PubMed Link: 27799157

Variant Present in the following documents:

• Main text

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Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.

International Journal Of Cancer

Win, Aung Ko AK; Reece, Jeanette C JC; Dowty, James G JG; Buchanan, Daniel D DD; Clendenning, Mark M; Rosty, Christophe C; Southey, Melissa C MC; Young, Joanne P JP; Cleary, Sean P SP; Kim, Hyeja H; Cotterchio, Michelle M; Macrae, Finlay A FA; Tucker, Katherine M KM; Baron, John A JA; Burnett, Terrilea T; Le Marchand, Loïc L; Casey, Graham G; Haile, Robert W RW; Newcomb, Polly A PA; Thibodeau, Stephen N SN; Hopper, John L JL; Gallinger, Steven S; Winship, Ingrid M IM; Lindor, Noralane M NM; Jenkins, Mark A MA

Publication Date: 2016-10-01

Variant appearance in text: HR: 1187G>A; Gly396Asp

PubMed Link: 27194394

Variant Present in the following documents:

• Main text

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Clinical guideline seom: hereditary colorectal cancer.

Clinical & Translational Oncology : Official Publication Of The Federation Of Spanish Oncology Societies And Of The National Cancer Institute Of Mexico

Guillén-Ponce, C C; Serrano, R R; Sánchez-Heras, A B AB; Teulé, A A; Chirivella, I I; Martín, T T; Martínez, E E; Morales, R R; Robles, L L

Publication Date: 2015-12

Variant appearance in text: HR: Gly396Asp

PubMed Link: 26586118

Variant Present in the following documents:

• Main text
• 12094_2015_Article_1439.pdf

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Circulating clinical strains of human parainfluenza virus reveal viral entry requirements for in vivo infection.

Journal Of Virology

Palmer, Samantha G SG; DeVito, Ilaria I; Jenkins, Stephen G SG; Niewiesk, Stefan S; Porotto, Matteo M; Moscona, Anne A

Publication Date: 2014-11

Variant appearance in text: HR: G396D

PubMed Link: 25210187

Variant Present in the following documents:

• Main text

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