Publications:

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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: APC: 607C>T; Gln203Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: APC: 607C>T

PubMed Link: 36647026

Variant Present in the following documents:

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

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Establishment and characterization of 18 human colorectal cancer cell lines.

Scientific Reports

Kim, Soon-Chan SC; Kim, Hyun-Soo HS; Kim, Jae Hyeon JH; Jeong, Nahyun N; Shin, Young-Kyoung YK; Kim, Min Jung MJ; Park, Ji Won JW; Jeong, Seung-Yong SY; Ku, Ja-Lok JL

Publication Date: 2020-04-22

Variant appearance in text: APC: 607C>T

PubMed Link: 32321971

Variant Present in the following documents:

• 41598_2020_63812_MOESM1_ESM.pdf

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Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Journal Of Medical Genetics

Stradella, Agostina A; Del Valle, Jesús J; Rofes, Paula P; Feliubadaló, Lídia L; Grau Garces, Èlia È; Velasco, Àngela À; González, Sara S; Vargas, Gardenia G; Izquierdo, Ángel Á; Campos, Olga O; Tornero, Eva E; Navarro, Matilde M; Balmaña-Gelpi, Judith J; Capellá, Gabriel G; Pineda, Marta M; Brunet, Joan J; Lázaro, Conxi C

Publication Date: 2019-08

Variant appearance in text: APC: 607C>T

PubMed Link: 30580288

Variant Present in the following documents:

• Main text
• jmedgenet-2018-105700.pdf

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: rs141576417

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

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Allele-specific expression of APC in adenomatous polyposis families.

Gastroenterology

Castellsagué, Ester E; González, Sara S; Guinó, Elisabet E; Stevens, Kristen N KN; Borràs, Ester E; Raymond, Victoria M VM; Lázaro, Conxi C; Blanco, Ignacio I; Gruber, Stephen B SB; Capellá, Gabriel G

Publication Date: 2010-08

Variant appearance in text: APC: 607C>T; Gln203X

PubMed Link: 20434453

Variant Present in the following documents:

• Main text

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Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

Bmc Medicine

Kanter-Smoler, Gunilla G; Fritzell, Kaisa K; Rohlin, Anna A; Engwall, Yvonne Y; Hallberg, Birgitta B; Bergman, Annika A; Meuller, Johan J; Grönberg, Henrik H; Karlsson, Per P; Björk, Jan J; Nordling, Margareta M

Publication Date: 2008-04-24

Variant appearance in text: APC: Gln203X

PubMed Link: 18433509

Variant Present in the following documents:

View BVdb publication page

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