Risk of secondary leukemias in patients with germline PALB2 pathogenic variants after chemotherapy exposure.

H Ellaithy, L Bear, K Steinberg, DS Micalizzi… - 2024 - ascopubs.org
10598 Background: Pathogenic variants in germline cancer-predisposing genes (eg
BRCA1/2, PALB2) confer an increased risk for solid tumors but not de novo myeloid …

Prevalence and risk factors of PALB2 germline pathogenic variants

MC Kang, YR Jung, S Lee, HS Kang, SY Jung, MC Lim… - Cancer Research, 2024 - AACR
Background: PALB2, located on chromosome 16, plays a vital role in DNA damage repair as
a partner and localizer of BRCA2. PALB2 germline pathogenic variant has been known to …

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

X Yang, G Leslie, A Doroszuk, S Schneider… - Journal of clinical …, 2020 - ascopubs.org
PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and
to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers …

[PDF][PDF] Dramatic Response to Platinum-Based Chemotherapy in a Germline PALB2 Variant Breast Cancer: A Case Report

K Ishida, T Iwaya, H Komatsu, S Amano… - Ann Clin Case Rep … - anncaserep.com
Abstract Introduction: The Partner and Localizer of BRCA2 (PALB2) is a DNA repair and
tumor suppressor protein that acts by stabilizing BRCA2, thereby mediating DNA repair and …

[引用][C] When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives

P Apostolou, F Fostira, G Fountzilas… - Cancer …, 2021 - cancergeneticsjournal.org
On the quest to find the genetic etiology within a family with multiple cancer diagnoses,
identification of a pathogenic variant through multigene panel testing is the initial step of …

Functional analysis of patient-derived PALB2 missense variants of uncertain significance.

S Wu, J Zhou, Y Chen - 2020 - ascopubs.org
1531 Background: Inherited PALB2 pathogenic variants are associated with an increased
lifetime risk for breast cancer development. However, the interpretation of numerous PALB2 …

[HTML][HTML] Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

M Tischkowitz, J Balmaña, WD Foulkes, P James… - Genetics in …, 2021 - Elsevier
Purpose PALB2 germline pathogenic variants are associated with increased breast cancer
risk and smaller increased risk of pancreatic and likely ovarian cancer. Resources for health …

PALB2 and the Risks for Cancer: Implications for Clinical Care.

EC Smith - Oncology Nursing Forum, 2015 - search.ebscohost.com
Mutations in the PALB2 gene are responsible for a small but significant percentage of
cancer risks in familial breast and pancreatic cancer families. PALB2 mutations may be …

Analysis of PALB2 in a cohort of Italian breast cancer patients: identification of a novel PALB2 truncating mutation

MT Vietri, G Caliendo, C Schiano, A Casamassimi… - Familial cancer, 2015 - Springer
PALB2 gene is mutated in about 1–2% of familial breast cancer as well as in 3–4% of
familial pancreatic cancer cases. Few studies have reported mutations in Italian patients with …

Identification and management of pathogenic mutations in BRCA1, BRCA2, and PALB2 in a tumor-only genomic testing program.

BL Bychkovsky, T Li, J Sotelo, N Tayob, J Mercado… - 2021 - ascopubs.org
10528 Background: Tumor-genomic testing is increasingly used to guide treatment
decisions in cancer patients. Although tumor-only testing cannot definitively distinguish …