Hereditary breast cancer: syndromes, tumour pathology and molecular testing

A Sokolova, KJ Johnstone, AE McCart Reed… - …, 2023 - Wiley Online Library
Hereditary factors account for a significant proportion of breast cancer risk. Approximately
20% of hereditary breast cancers are attributable to pathogenic variants in the highly …

Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era

GS Macedo, B Alemar, P Ashton-Prolla - Genetics and Molecular …, 2019 - SciELO Brasil
Germline mutations in BRCA1 and BRCA2 (BRCA) genes confer high risk of developing
cancer, especially breast and ovarian tumors. Since the cloning of these tumor suppressor …

Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis

C Cybulski, W Kluźniak, T Huzarski… - The Lancet …, 2015 - thelancet.com
Background Mutations in PALB2 predispose to breast cancer, but the effect on prognosis of
carrying a PALB2 mutation has not been ascertained. We aimed to estimate the odds ratio …

Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer

C Petridis, I Arora, V Shah, CL Moss, A Mera… - … Biomarkers & Prevention, 2019 - AACR
Background: Invasive lobular breast cancer (ILC) accounts for approximately 15% of
invasive breast carcinomas and is commonly associated with lobular carcinoma in situ …

PALB2: research reaching to clinical outcomes for women with breast cancer

MC Southey, I Winship, T Nguyen-Dumont - Hereditary cancer in clinical …, 2016 - Springer
PALB2 has taken its place with bona fide breast cancer susceptibility genes. It is now well
established that women who carry loss-of-function mutations in the PALB2 gene are at …

Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years

C Petridis, I Arora, V Shah, A Megalios, C Moss… - Breast Cancer …, 2019 - Springer
Introduction Ductal carcinoma in situ (DCIS) is a non-obligate precursor of invasive ductal
breast cancer, and approximately 20% of screen-detected tumours are pure DCIS. Most risk …

[HTML][HTML] DNA repair genes implicated in triple negative familial non-BRCA1/2 breast cancer predisposition

M Ollier, N Radosevic-Robin… - American journal of …, 2015 - ncbi.nlm.nih.gov
Abstract Among breast cancers, 10 to 15% of cases would be due to hereditary risk. In these
familial cases, mutations in BRCA1 and BRCA2 are found in only 15% to 20%, meaning that …

Evaluation of TP53/PIK3CA mutations using texture and morphology analysis on breast MRI

WK Moon, HH Chen, SU Shin, W Han… - Magnetic resonance …, 2019 - Elsevier
Purpose Somatic mutations in TP53 and PIK3CA genes, the two most frequent genetic
alternations in breast cancer, are associated with prognosis and therapeutic response. This …

Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada

T Hartley, L Cavallone, N Sabbaghian… - Hereditary cancer in …, 2014 - Springer
Background PALB2 has emerged as a breast cancer susceptibility gene. Mutations in
PALB2 have been identified in almost all breast cancer populations studied to date, but the …

Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry

T Nguyen-Dumont, F Hammet, M Mahmoodi… - Breast cancer research …, 2015 - Springer
Loss-of-function mutations in PALB2 are associated with an increased risk of breast cancer,
with recent data showing that female breast cancer risks for PALB2 mutation carriers are …