Evidence map›Paper›PMID 34857041›Full record

ArticleGenome medicine2021

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Peh Joo Ho, Alexis J Khng, Hui Wen Loh, Weang-Kee Ho, Cheng Har Yip, Nur Aishah Mohd-Taib, Veronique Kiak Mien Tan, Benita Kiat-Tee Tan, Su-Ming Tan, Ern Yu Tan and 28 more

Open access · goldAbstract read
In one paragraph

Article in Genome medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 25% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Observational
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

38 authors at 20 institutions in 5 countries.

Peh Joo HoGenome Institute of Singapore, Human Genetics, Singapore, Singapore.
Alexis J KhngGenome Institute of Singapore, Human Genetics, Singapore, Singapore.
Hui Wen LohGenome Institute of Singapore, Human Genetics, Singapore, Singapore.
Weang-Kee HoSchool of Mathematical Sciences, Faculty of Science and Engineering, University of Nottingham Malaysia, Jalan Broga, 43500, Semenyih, Selangor, Malaysia.
Cheng Har YipSubang Jaya Medical Centre, Jalan SS 12/1A, 47500, Subang Jaya, Selangor, Malaysia.
Nur Aishah Mohd-TaibDepartment of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Veronique Kiak Mien TanDepartment of Breast Surgery, Singapore General Hospital, Singapore, Singapore.
Benita Kiat-Tee TanDepartment of Breast Surgery, Singapore General Hospital, Singapore, Singapore.
Su-Ming TanDivision of Breast Surgery, Changi General Hospital, Singapore, Singapore.
Ern Yu TanDepartment of General Surgery, Tan Tock Seng Hospital, Singapore, 308433, Singapore.
Swee Ho LimKK Breast Department, KK Women's and Children's Hospital, Singapore, 229899, Singapore.
Suniza JamarisDepartment of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Yirong SimDepartment of Breast Surgery, Singapore General Hospital, Singapore, Singapore.
Fuh Yong WongDivision of Radiation Oncology, National Cancer Centre Singapore, Singapore, Singapore.
Joanne NgeowLee Kong Chian School of Medicine, Nanyang Technology University, Singapore, Singapore.
Elaine Hsuen LimDivision of Medical Oncology, National Cancer Centre Singapore, Singapore, Singapore.
Mei Chee TaiCancer Research Malaysia, 1 Jalan SS12/1A, 47500, Subang Jaya, Selangor, Malaysia.
Eldarina Azfar WijayaCancer Research Malaysia, 1 Jalan SS12/1A, 47500, Subang Jaya, Selangor, Malaysia.
Soo Chin LeeDepartment of Hematology-oncology, National University Cancer Institute, National University Health System, Singapore, 119074, Singapore.
Ching Wan ChanDepartment of Surgery, University Surgical Cluster, National University Hospital, Singapore, Singapore.
Shaik Ahmad BuhariDepartment of Surgery, University Surgical Cluster, National University Hospital, Singapore, Singapore.
Patrick M Y ChanDepartment of General Surgery, Tan Tock Seng Hospital, Singapore, 308433, Singapore.
Juliana J C ChenDepartment of General Surgery, Tan Tock Seng Hospital, Singapore, 308433, Singapore.
Jaime Chin Mui SeahDivision of Breast Surgery, Changi General Hospital, Singapore, Singapore.
Wai Peng LeeDivision of Breast Surgery, Changi General Hospital, Singapore, Singapore.
Chi Wei MokDivision of Breast Surgery, Changi General Hospital, Singapore, Singapore.
Geok Hoon LimKK Breast Department, KK Women's and Children's Hospital, Singapore, 229899, Singapore.
Evan WooKK Breast Department, KK Women's and Children's Hospital, Singapore, 229899, Singapore.
Sung-Won KimDepartment of Surgery, Breast Care Center, Daerim St. Mary's Hospital, Seoul, Korea.
Jong Won LeeDepartment of Surgery, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Republic of Korea.
Min Hyuk LeeDepartment of Surgery, Soonchunhyang University and Hospital, Seoul, Republic of Korea.
Sue K ParkDepartment of Preventive Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Marjanka K SchmidtDivision of Molecular Pathology, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Soo-Hwang TeoCancer Research Malaysia, 1 Jalan SS12/1A, 47500, Subang Jaya, Selangor, Malaysia.
Jingmei Li *Genome Institute of Singapore, Human Genetics, Singapore, Singapore. lijm1@gis.a-star.edu.sg.ORCID 0000-0001-8587-7511
Mikael Hartman *Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.
Changi General Hospital · SGKK Women's and Children's Hospital · SGNational University of Singapore · SGSingapore General Hospital · SGTan Tock Seng Hospital · SGUniversity of Malaya · MYCancer Research Malaysia · MYGenome Institute of Singapore · SGNational Cancer Centre Singapore · SGNational University Hospital · SGUniversity of Cambridge · GBNanyang Technological University · SGNational University Cancer Institute, Singapore · SGSeoul National University · KRSoonchunhyang University Hospital Seoul · KRSubang Jaya Medical Centre · MYThe Catholic University of Korea Seoul St. Mary's Hospital · KRThe Netherlands Cancer Institute · NLUlsan College · KRUniversity of Nottingham Malaysia Campus · MY

Funding

Wellcome Trust 203477/Z/16/ZWellcome Trust V203477/Z/16/Z
6 · The paper itself

Abstract

backgroundMutations in certain genes are known to increase breast cancer risk. We study the relevance of rare protein-truncating variants (PTVs) that may result in loss-of-function in breast cancer susceptibility genes on tumor characteristics and survival in 8852 breast cancer patients of Asian descent.

methodsGene panel sequencing was performed for 34 known or suspected breast cancer predisposition genes, of which nine genes (ATM, BRCA1, BRCA2, CHEK2, PALB2, BARD1, RAD51C, RAD51D, and TP53) were associated with breast cancer risk. Associations between PTV carriership in one or more genes and tumor characteristics were examined using multinomial logistic regression. Ten-year overall survival was estimated using Cox regression models in 6477 breast cancer patients after excluding older patients (≥75years) and stage 0 and IV disease.

resultsPTV

conclusionsPTV

Indexed as

Breast NeoplasmsBRCA1 ProteinFemaleGenetic Predisposition to DiseaseGenetic TestingGerm CellsGerm-Line MutationHumansOdds RatioBRCA1 ProteinBreast cancerOverall survivalProtein-truncating variants

Identifiers

PMID34857041
PMCPMC8638193
OpenAlexW3217258436

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.