Evidence map›Paper›PMID 40392478›Full record

ArticleBreast cancer research and treatment2025

Predicting the likelihood of carrying BRCA1 or BRCA2 pathogenic variants in high-risk Pakistani breast cancer patients.

Shumaila Arif, Noor Muhammad, Boon Hong Ang, Humaira Naeemi, Waqas Sami, Weang Kee Ho, Ute Hamann, Muhammad Usman Rashid

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Article in Breast cancer research and treatment, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

8 authors.

Shumaila ArifBasic Sciences Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre, 7-A, Block R-3, Johar Town, Lahore, Pakistan.
Noor MuhammadBasic Sciences Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre, 7-A, Block R-3, Johar Town, Lahore, Pakistan.
Boon Hong AngCancer Research Malaysia, Subang Jaya, Malaysia.
Humaira NaeemiBasic Sciences Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre, 7-A, Block R-3, Johar Town, Lahore, Pakistan.
Waqas SamiDepartment of Pre-Clinical Affairs, College of Nursing, QU Health, Qatar University, Doha, Qatar.
Weang Kee HoCancer Research Malaysia, Subang Jaya, Malaysia.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Muhammad Usman RashidBasic Sciences Research, Shaukat Khanum Memorial Cancer Hospital and Research Centre, 7-A, Block R-3, Johar Town, Lahore, Pakistan. usmanr@skm.org.pk.

Funding

Shaukat Khanum Memorial Cancer Hospital and Research Centre, Pakistan ONC-BRCA-002
6 · The paper itself

Abstract

purposePathogenic variants (PVs) in BRCA1/2 increase the lifetime risk of breast cancer (BC). Predictive algorithms for BRCA1/2 PVs, primarily developed for Caucasian BC patients, often underestimate carrier probability in Asian populations. The recently developed Asian Risk Calculator (ARiCa) aims to predict BRCA1/2 PV likelihood in Malaysian/Singaporean BC patients. This study investigates the ARiCa's performance in Pakistani female BC patients.

methodsA cohort of 627 high-risk Pakistani female BC patients was evaluated. Using ARiCa, the likelihood of being a BRCA1/2 carrier was estimated based on factors such as age at diagnosis, ethnicity, bilateral BC status, tumor histopathological features, and family history of BC or ovarian cancer. The tool's discriminative ability was evaluated using the area under the curve (AUC).

resultsOf the participants, 133 (21.2%) were BRCA1 carriers, 25 (4.0%) were BRCA2 carriers, and 469 (74.8%) were non-carriers. The mean age at BC diagnosis was 34.3 years (range 19-73). Overall, ARiCa showed well calibration for predicting BRCA1/2 (HL 12.11, P = 0.147), BRCA1 (HL 14.17, P = 0.078), and BRCA2 carriers (HL 9.01, P = 0.342). The tool showed acceptable discrimination for BRCA1/2 (AUC 0.77, 95% CI 0.72-0.81) and BRCA1 carriers (AUC 0.80, 95% CI 0.75-0.84), but lower discrimination for BRCA2 carriers (AUC 0.51, 95% CI 0.39-0.64). At a 21% threshold, ARiCa would recommend BRCA1/2 screening for 43% of patients, with sensitivity and specificity at 73% and 68%, respectively.

conclusionThe ARiCa tool demonstrates strong predictive performance for BRCA1/2 carriers, specifically for BRCA1 carriers in Pakistani BC patients, suggesting its potential clinical utility.

Indexed as

BRCA1 ProteinBRCA2 ProteinBreast NeoplasmsGenetic Predisposition to DiseaseAdultAgedFemaleGenetic TestingHeterozygoteHumansMiddle AgedMutationPakistanRisk AssessmentYoung AdultBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanAsian Risk Calculator (ARiCa)Breast cancerPakistanRisk prediction tool

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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.