Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2

S Yadav, NJ Boddicker, J Na, EC Polley… - Journal of Clinical …, 2023 - ascopubs.org
PURPOSE To estimate the risk of contralateral breast cancer (CBC) among women with
germline pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2 …

Challenges in breast cancer genetic testing. A call for novel forms of multidisciplinary care and long-term evaluation

FH Menko, K Monkhorst, FBL Hogervorst… - Critical Reviews in …, 2022 - Elsevier
Current methods of next generation sequencing may simultaneously detect multiple
germline breast cancer susceptibility variants. However, it is a challenge to maximize the …

Controversies and Open Questions in Management of Cancer-Free Carriers of Germline Pathogenic Variants in BRCA1/BRCA2

R Bernstein-Molho, E Friedman, E Evron - Cancers, 2022 - mdpi.com
Simple Summary Female carriers of germline pathogenic/likely pathogenic variants
(P/LPVs) in the BRCA1/BRCA2 (BRCA) genes are at a substantially increased lifetime risk …

The association between age at breast cancer diagnosis and prevalence of pathogenic variants

MB Daly, E Rosenthal, S Cummings… - Breast Cancer Research …, 2023 - Springer
Purpose Young age at breast cancer (BC) diagnosis and family history of BC are strongly
associated with high prevalence of pathogenic variants (PVs) in BRCA1 and BRCA2 genes …

Breast cancer susceptibility gene sequence variations and development of contralateral breast cancer

AS Reiner, GP Watt, KE Malone, CF Lynch… - JAMA network …, 2024 - jamanetwork.com
Importance Heterogeneity in development of estrogen receptor (ER)-specific first primary
breast cancer exists due to deleterious germline variants in moderate-to high-penetrance …

[PDF][PDF] Germline genetic testing for women with breast cancer: shifting the paradigm from whom to test to whom NOT to test

N Tung, N Desai - Journal of Clinical Oncology, 2021 - scholar.archive.org
For women with breast cancer, the value of identifying a high-penetrance mutation in a
breast cancer gene is well-established. It provides the opportunity for contralateral …

Race and site of care impact treatment delays in older women with non-metastatic breast cancer

JH Song, O Kantor, EA Mittendorf, TA King… - Annals of Surgical …, 2022 - Springer
Background Women≥ 65 years of age are less likely to receive guideline-concordant breast
cancer care. Given existing racial/ethnic disparities, older minority breast cancer patients …

Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast

H Huang, RE Couch, R Karam, C Hu… - Clinical Cancer …, 2025 - aacrjournals.org
Purpose: To determine the relationship between germline pathogenic variants (PV) in
cancer predisposition genes and the risk of ductal carcinoma in situ (DCIS). Experimental …

Accurate genome-wide genoty** from archival tissue to explore the contribution of common genetic variants to pre-cancer outcomes

D Nachmanson, M Pagadala, J Steward… - Journal of Translational …, 2022 - Springer
Purpose The contribution of common genetic variants to pre-cancer progression is
understudied due to long follow-up time, rarity of poor outcomes and lack of available …

Mainstream germline genetic testing with expanded eligibility for early breast cancer patients in a large integrated health system

V Shim, A Karlea, LM Brenman, J Gul… - Annals of Surgical …, 2025 - Springer
Background This study evaluated a new mainstream genetic testing pathway for hereditary
cancer, with expanded eligibility for early-stage breast cancer patients. Methods The study …