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Excerpt from a presentation on oncogenetics given by Dr Ai Ling Tan. The presentations aim was to give clinicians a perspective of the emerging and ever-growing field of cancer genetics and its implications on daily practice. This area has gained more impetus as genetic status can impact on treatment decisions and patients are better informed and empowered. Women are more proactive in making decisions on prevention and surveillance.

Everyone has BRCA genes, but it is the mutations (changes) in these genes that increase women’s risk of breast and ovarian cancer. The lifetime risk of breast cancer up to the age of 70 with BRCA1 is 57% and ovarian cancer is 40%. The lifetime risk of breast cancer up to the age of 70 with BRCA2 is 40% and ovarian 18%. There is also an increased risk of pancreatic cancers.

Genetic testing is now offered to all women with non-mucinous ovarian cancer who are younger than 70 as this can affect their prognosis as they may be offered different treatment options if they are BRCA positive. It also offers their families the option of genetic testing and with a combination of surveillance, risk-reducing medication and surgery decrease their risk in some cancers.

“To identify a woman as a carrier after the diagnosis of cancer is a failure of cancer prevention” – Dr Marie Claire King (founder of the BRCA gene).

Unfortunately, there is no role for ovarian cancer screening with imaging or Ca125. This has not been proven to be effective in detecting ovarian cancer at an early stage.

Risk-reducing surgery (removal of the tubes and ovaries) significantly decreases the risk of ovarian cancer. In can also decrease the risk of breast cancer. There are various pros and cons in making this decision and it is important that the discussion is with a specialist who is familiar in this area. There are guidelines for surgery and pathological assessment of the specimens which have to be followed as there is a risk that there is an occult cancer. This would have management implications.

Major specialist bodies around the world advocate that, women who are not at high risk for BRCA mutation and have completed their families, have their fallopian tubes removed at the time of any benign gynaecological surgery as this can also prevent a proportion of ovarian cancers.

Endometrial cancer (cancer of the lining of the womb) is the most common gynaecological cancer in the world.

Gynaecological Oncologist Dr Ai Ling Tan from Auckland met with Professor Karen Lu from MD Anderson Clinical Cancer Centre the United States in Taupō on Thursday to discuss the causes, factors and effects of the ‘on-the-rise’ cancer.

Prof Lu was the invited speaker at the Australian Society Gynaecologic Oncologists (ASGO) held at the Hilton Lake Taupō [4-7 July].

Professor Karen Lu said endometrial cancers are on the rise due to the increase in obesity worldwide. A study held in the US showed the majority of overweight or obese women aren’t aware of the link between obesity and cancer, let alone obesity and uterine cancer.

Endometrial cancer is caused by an increase in estrogen, driving the cells in the womb to grow and therefore increasing the risk of cancer developing.

Lu said the bottom line is, obesity can increase the risk of breast and uterine cancer because fat cells increase the amount of estrogen that is made.

She said increasing exercise, improving your diet and losing weight will decrease the risk of not only endometrial cancers but other cancers.

Empowering women with information whether they’re in Taupō or anywhere in the world means they have a choice to make some changes to decrease their risk.

Women’s risk of gynaecological cancers can be further elevated by having a faulty gene. These are typically inherited, being passed on by either parent. Lynch syndrome is a condition where faulty genes increase the risk of endometrial cancers.

Two genes that women may have heard of is BRCA1 and BRCA2 which increases their risk of ovarian and breast cancers.

“When a woman finds out she has a faulty BRCA 1 or 2 gene, they will be recommended risk management options.

“Unfortunately, there is no surveillance that improves the detection of ovarian cancer so they will be offered risk-reducing surgery (taking both tubes and ovaries out). However, they don’t need to feel like they need to have surgery immediately.

“It’s best to be thoughtful, think about the timing, implications and the role of hormone replacement,” Lu said.

It’s worth noting that men can also have similar faulty genes that increase their risk of prostate and breast cancer (BRCA1/2) and colon cancer (Lynch Syndrome).

If women (or men) in Taupō are concerned, gather information on their family cancer history and have a discussion with their general practitioners (GP). Sometimes a referral to a genetic counsellor is required.

Dr Ai Ling Tan said GP’s in Taupō can refer to Genetic Health Service (Northern Hub) in Auckland. Patients can also be referred to a private service – NZ Family Cancer Service.

Further information is available on the Genetic Health Service NZ and NZ Family Cancer Service websites.

Reported on Stuff – click here

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