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Genet Med: The clinical applicability of PALB2 and CHEK2 c.1100delC detection in breast-ovarian cancer

 Last Update: 2021-06-21
 Source: Internet
 Author: User

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malignant breast cancer

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Breast cancer is the most common cancer in women

About 4% of breast cancer cases carry high-risk pathogenic germline gene variants

This study aims to evaluate the contribution of PALB2 pathogenic variants (PALB2-PGV) and CHEK2 c.

PALB2 pathogenic variants (PALB2-PGV) and CHEK2 c.

A total of 3127 female patients with histologically confirmed invasive breast cancer, carcinoma in situ and epithelial non-mucinous ovarian cancer with germline PALB2-PGV and CHEK2-1100delC test results and 1567 female controls were included; Breast cancer pathology in PALB2-PGV cases of extended family

Detection of the pathology and detection rate of PALB2 and CHEK2-1100delC PGV

In this study, 35 cases of PALB2 and 44 cases of CHEK2-1100delC PGV were detected (odds ratio [OR] PALB2 breast-ovary: 5.

A total of 35 cases of PALB2 and 44 cases of CHEK2-1100delC PGV were detected.

The incidence of PALB2 and CHEK2-1100delC PGV in BRCA1/2 negative families with different Manchester scores

The probability of PALB2-PGV increases with the increase of Manchester Score (MS) (MS<15: 29/1762; MS 20-39: 4/520); but CHEK2-1100delC does not have this phenomenon

PALB2-PGV showed perfect separation among the 20/20 first-degree relatives of breast cancer patients, but the ratio of CHEK2-1100delC was only 7/13

All in all, PALB2-PGV and CHEK2-1100delC together can explain approximately 2.

PALB2-PGV and CHEK2-1100delC together can explain about 2.

Original source:

Woodward Emma R,van Veen Elke M,Forde Claire et al.

Clinical utility of testing for PALB2 and CHEK2 c.
1100delC in breast and ovarian cancer

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