Hereditary Breast and Gynaecological Cancer Panel

Overview

Test Name

Hereditary Breast and Gynaecological Cancer Panel

Test Code

HCE1002

Test Category

Gene Panels

Test Subcategory

Hereditary Cancer

Disease(s) Targeted

Hereditary Breast and Gynaecological Cancer

Who Is The Test For?

Patients with a family history, clinical suspicion, or diagnosis of Breast and Gynaecological Cancer

Test Approach

Whole exome sequencing (WES) with in silico gene panel analysis

No. of Genes

Panel Content

ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCM, MLH1, MRE11, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL, SMARCA4, STK11, TP53, XRCC2

Mitochondrial Genome Included In The Analysis

Deliverables

Clinical Report (Download a sample report here)

Turnaround Time

~3-6 weeks*

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Hereditary Breast and Gynaecological Cancer

Hereditary Breast and Gynaecological Cancer refers to breast and gynaecological cancers that are caused by inherited genetic variants. These variantssignificantly increase the risk of developing these cancers and can be passed from parents to their children.

Breast cancer is a leading cancer in women, with a significant portion of cases having a genetic link, predominantly involvingBRCA1/BRCA2variants but also other genes like PALB2 and TP53. The prevalence of BRCA1 and BRCA2 pathogenic variants in the general population is estimated at 1in 100-200. Gynecological cancers, such as ovarian, and endometrial cancer, also show genetic links, with Lynch syndrome genes (MLH1, MSH2, etc.) being common for endometrial cancer, and BRCA1 and BRCA2 being rather common for ovarian cancer.