Publications:

---

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: PTEN: 46T>C; Tyr16His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics

Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G

Publication Date: 2023-01-03

Variant appearance in text: rs1064796078

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.xlsx, sheet 1

View BVdb publication page

---

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs1064796078

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6

View BVdb publication page

---

LYRUS: a machine learning model for predicting the pathogenicity of missense variants.

Bioinformatics Advances

Lai, Jiaying J; Yang, Jordan J; Gamsiz Uzun, Ece D ED; Rubenstein, Brenda M BM; Sarkar, Indra Neil IN

Publication Date: 2022

Variant appearance in text: PTEN: Y16H

PubMed Link: 35036922

Variant Present in the following documents:

• Main text
• vbab045.pdf

View BVdb publication page

---

The microbiome in PTEN hamartoma tumor syndrome.

Endocrine-Related Cancer

Byrd, Victoria V; Getz, Ted T; Padmanabhan, Roshan R; Arora, Hans H; Eng, Charis C

Publication Date: 2018-03

Variant appearance in text: PTEN: 46T>C; Tyr16His

PubMed Link: 29233840

Variant Present in the following documents:

• erc-25-233-t001.pdf

View BVdb publication page

---

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal Of Medical Genetics

Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR

Publication Date: 2015-02

Variant appearance in text: PTEN: Y16H

PubMed Link: 25527629

Variant Present in the following documents:

• jmedgenet-2014-102803-s1.pdf

View BVdb publication page

---

Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Ngeow, Joanne J; Stanuch, Kim K; Mester, Jessica L JL; Barnholtz-Sloan, Jill S JS; Eng, Charis C

Publication Date: 2014-06-10

Variant appearance in text: PTEN: 46T>C; Tyr16His

PubMed Link: 24778394

Variant Present in the following documents:

• Main text

View BVdb publication page

---