香港研究發現，兩種罕見基因突變攜帶者罹患乳癌和卵巢癌的風險較高

Researchers in Hong Kong have discovered two uncommon gene mutations among nearly 5,000 individuals with breast and ovarian cancer, as well as their relatives. These mutations significantly increase the risk of developing these cancers. The study is a collaboration between the HKSH Medical Group, the University of Hong Kong, and the Hong Kong Hereditary Breast Cancer Family Registry. Since 2007, they have been using cutting-edge technology to identify cancer-causing genes. Clinical professor Ava Kwong advises that high-risk individuals should seek genetic testing through a doctor or the registry, cautioning against the use of unverified home testing kits.

Breast and ovarian cancers made up a significant portion of the cancer diagnoses in Hong Kong women in 2020, leading to over a thousand deaths. A fraction of these cases are hereditary, meaning they are passed down through families, often appearing earlier and in various forms. Known mutations like BRCA1 and BRCA2 are responsible for some of these cases, but recent advancements have revealed others, such as PALB2 and TP53, which are just as dangerous. Women with PALB2 have a similar risk of developing breast cancer as those with BRCA mutations, while TP53 mutation carriers face up to a 90% risk by age 80, with early onset and a strong family history.

Genetic testing not only helps in assessing the risk but also in planning preventive measures like regular screenings or surgeries to remove at-risk tissues. These tests are also crucial for treatment decisions, as certain gene mutations may qualify patients for targeted therapies like PARP inhibitors. Currently, public hospitals subsidize these tests for ovarian cancer patients, and discussions are underway to extend this support to breast cancer patients. The research team aims to gather more data to evaluate the impact of genetic testing and identify individuals at high risk, ultimately influencing healthcare policy for the betterment of the community.