ENPNewswire-August 7, 2019--Karolinska Institutet: Novel oxygen-sensing pathway identified that is lost in hypoxic tumors and in cells arising in the von Hippel-Lindau hereditary cancer syndrome
causing cancer therapy resistance
HP LLC believes that an at-market commercial license for a branded, patent-protected orphan drug with seven years of statutory market exclusivity and that uniquely addresses the chronic needs of a hereditary cancer syndrome
like Basal Cell Carcinoma Nevus Syndrome (BCCNS or Gorlin's syndrome) would provide a substantial upfront payment, a portion of which might be tied to additional regulatory milestones, a significantly greater royalty, and additional significant payments tied to one-time sales milestones.
She explained that this will entail a three-pronged approach: doing a better job of promptly evaluating potential symptoms of CRC, casting a wider net in search of patients with a hereditary cancer syndrome
, and initiating earlier screening, especially in high-risk patients--a category that she said should include all African Americans.
Von Hippel-Lindau disease is a rare, hereditary cancer syndrome
in which affected individuals have a mutation and/or deletion of the tumor suppressor VHL gene, and are at risk for the development of multiple tumors including renal cell cancer.
With oophorectomy either for breast cancer or because of a hereditary cancer syndrome
such as BRCA mutation, it is important to ensure that the ovarian vessel pedicle is transected at least 2 cm from its insertion in the ovary.
You recall that breast cancer diagnosed before age 50 years and Ashkenazi ancestry are "red flags" for a hereditary cancer syndrome
. The patient wonders how her daughters should be screened.
Cancer-free individuals whose family history indicates suspicion for a hereditary cancer syndrome
should undertake clinical genetic evaluation and receive genetic counseling.
Lanspa, "Genetics, biomarkers, hereditary cancer syndrome
diagnosis, heterogeneity and treatment: a review," Current Treatment Options in Oncology, vol.
Eng, "Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome
," Journal ofSurgical Oncology, vol.
Through the collection and evaluation of a family cancer history by a trained health care provider, patients and families at increased risk for a hereditary cancer syndrome
can be identified, referred for genetic counseling and testing, and make informed decisions about options for cancer risk reduction (1).
The discussion presented herein is not exhaustive of tumor types that are associated with hereditary cancer syndromes
. Furthermore, there are situations in which the a priori likelihood of a hereditary cancer syndrome
is increased, as in cases with multiple primaries known to be associated with a syndrome, such as endometrial cancer and colon cancer in the same patient, in individuals with rare tumors such as pheochromocytoma, or paraganglioma, or otherwise common malignancies such as basal cell carcinomas when present in strikingly elevated numbers, or those with uncharacteristically early ages of onset.
The first steps in determining whether a hereditary cancer syndrome
is present in a family are to gather detailed family, medical, and lifestyle histories and to obtain details of cancer sites and histological features of the tumours.