Presently, many genetic testing panels for
cancer susceptibility are available in the market.
The laboratory seeks a broad understanding of factors related to
cancer susceptibility using knowledge derived from epidemiologic studies as well as fundamental cellular and molecular biology.
The EC has approved the product as monotherapy treatment for adult patients with germline breast
cancer susceptibility gene (gBRCA)1/2-mutations, who have human epidermal growth factor receptor 2-negative (HER2-) locally advanced or metastatic breast cancer.
BioMarin Pharmaceutical (BMRN) announced that the company earned a $15M milestone payment from Pfizer (PFE), triggered by the European Commission approval of Talzenna as monotherapy for the treatment of adult patients with germline breast
cancer susceptibility gene 1/2-mutations, who have human epidermal growth factor receptor 2-negative locally advanced or metastatic breast cancer.
Certain inherited PTEN mutations can cause syndromes characterized by
cancer susceptibility and developmental defects.
Number of studies highlighted the role of XPD polymorphisms in
cancer susceptibility including, lung, [5] prostate, [12] breast, [8] and head and neck cancer [3,4] among different ethnic populations, whereas other studies failed to find positive association of XPD polymorphism in the head and neck cancer [22] or breast carcinoma.
This is the first novel mutation ever reported in a Moroccan family associated with colon
cancer susceptibility. Identification of such mutations is crucial and can widely aid in the management of colorectal cancer in predisposed populations through molecular screening, prevention strategies, and follow-up of suspected LS families.
On further questioning, the patient reports she had triple-negative (estrogen receptor-, progesterone receptor-, and human epidermal growth factor receptor 2 [HER2]-negative) breast cancer, a feature of patients with germline BRCA1 (breast
cancer susceptibility gene 1) mutations.
'This research also provides a foundation for others to investigate the DNA loci and associated genes that play roles in skin
cancer susceptibility and the effects of UV radiation."
Multiple large studies of the matched normal germ line variants in cancer patients have revealed that mutations in
cancer susceptibility genes are significantly more common than previously thought (3)?