Genomic Diagnostics

PALB2 Mutations Confer Similar Breast Cancer Risk as BRCA2

Aaron Robinson — Wed, 20 Aug 2014 06:25:28 +0000

On Aug. 6, 2014 researchers announced in The New England Journal of Medicine (N. Engl. J. Med 2014;371:497-506) that they had found that mutations in a gene called PALB2 greatly increase the risk of breast cancer. Women harbouring a loss-of-function mutation in the PALB2 gene demonstrated an increased risk of developing breast cancer that was similar to the predisposition seen with mutations in the infamous BRCA2 gene. This is one of the biggest developments since the discovery in the ’90s of the role of mutations in the BRCA1 and BRCA2 genes in breast and ovarian cancer. According to the New England Journal of Medicine study, by Marc Tischkowitz at the University of Cambridge and others, patients with a broken PALB2 gene and no family history of breast cancer have a 35 percent chance of developing breast cancer, but if they had two or more family members with cancer, the risk rises to 58 percent. The estimated cumulative risk of breast cancer for female PALB2 mutation carriers was 14% by age 50 and 35% by 70, representing a significant increase over the general population. The relative risk associated with PALB2 mutations was 8 to 9 in individuals below age 40, 6 to 8 for those between 40 and 60, and approximately 5 for those 60 and older. In general, the risk of developing breast cancer by age 70 for women with a mutation in BRCA1 or BRCA2 is approximately 60% and 45%, according to the National Cancer Institute. This is significant when you’re considering life-altering preventive surgery or screenings. The PALB2 gene codes the PALB2 protein that interacts with BRCA2 allowing it to connect with BRCA1, forming the BRCA complex

BRCA Screening for Improved Recurrent Ovarian Cancer Treatment Management

Aaron Robinson — Thu, 19 Jun 2014 05:56:38 +0000

Researchers have shed new light on treatment management for BRCA mutation carriers with recurrent ovarian cancer. Germ line BRCA mutation carriers are more sensitive to platinum chemotherapy. This study indicates improved progression free survival in BRCA mutation carriers with recurrent ovarian cancer treated with PLD or with gemcitabine. BRCA status has significant implications for treatment management of women with recurrent epithelial ovarian cancer.

Reference: Int J Gynecol Cancer 2014 Mar;24(3):488-95: The Effect of Germ-Line BRCA Mutations on Response to Chemotherapy and Outcome of Recurrent Ovarian Cancer. Safra, Tamar; Rogowski, Ori; Muggia, Franco M. PMID24457564

“All patients with high grade serous or endometrioid carcinoma should be tested for a BRCA mutation, regardless of the family history of breast or ovarian cancer” Dr Janette Tenne cited in Ovarian Cancer Research Review Issue 2-2014

Our team achieves top score in the International Quality Assurance Program

Aaron Robinson — Thu, 19 Jun 2014 05:55:43 +0000

Our team is proud to announce that we achieved 100% accuracy in genotyping and interpretation in the 2014 QAP EMQN. The results can be seen here.

The EMQN is the European Molecular Genetics Quality Network. It is the largest external quality assessment network for molecular genetic testing in the world. Participation enables laboratories to improve specific testing quality and demonstrates a laboratories commitment to a professional level of service.

BRCA Results (Breast and Ovarian Cancer)

Our team was benchmarked globally with 141 participating laboratories in 30 countries. Our team obtained full marks in detecting and classifying genetic variations in all programmes.

From the data, there are 30 participating countries, and two programmes.

89/141 laboratories achieved 100%.
Full marks (100%) was achieved by 2/11 laboratories from one country.

It can be concluded that this country is Australia (11 participating laboratories) and our team was one of the top achievers for Australia.

35 labs globally were below mean score

HNPCC Results (Colorectal Cancer)

Our team was benchmarked globally with 104 participating laboratories in 24 countries.

Below are the 24 participating countries.

Full marks for all 3 cases in all categories was obtained by only 34/104 laboratories and our team was once again one of the top achievers.

This data highlights the importance of ensuring your chosen testing laboratory is committed to the highest level of service. This great achievement highlights our team’s outstanding laboratory expertise and knowledge in the field of detecting and classifying genetic variation.