Genes, breasts and tests

In July I met with a genetic counselor; it was a hoop I had to jump through in order to get genetic testing. I figured I had learned what I needed to know from the pamphlet, “Your Jewish Genes: Hereditary Breast Cancer and Ovarian Cancer,”[i] which I found in my oncologist’s waiting area.   

But no! Bob Resta was a fast-talking, information-dense fount of facts[ii]. My attorney friend Layla and my physician father happened to be with me, and we were all fascinated, so I thought I’d share some of what we learned as I decimated Mr. Resta's bowl of Dove chocolate and madly scribbled in my notebook.[iii]

American women as a whole have a 12 percent lifetime risk of breast cancer. Ninety percent of breast cancer cases do not have an obvious genetic component. There are six genes known to cause breast cancer, at least four of which he said I clearly did not have. Some 30 percent of women who have a breast cancer gene don’t have a family history of breast cancer.

Resta felt it was worth testing me for BRCA1 and BRCA2, two of the better-known breast cancer genes. The odds of a person on the street having a cancer-carrying BRCA gene mutation are about one in 1,000. The chances of an Ashkenazi Jew[iv] having the gene are one in 40. The chances of an Ashkenazi Jew with breast cancer under age 50, with no family history –e.g., me – carrying the gene are one in 10. Striking, no doubt, but it also means there was a 90 percent chance I didn’t have the gene.

One reason to test for BRCA is that it has bearing on treatment decisions. A BRCA-positive woman with breast cancer has a 40 to 50 percent chance of developing breast cancer in the other breast, as opposed to a 5 percent chance without the gene. Presence of a BRCA gene also elevates the risk that a woman with breast cancer will develop ovarian cancer, from 2 percent without the gene to 20-40 percent with the gene. Hence many women with the gene opt for a double mastectomy, oophorectomy and fallopian tube removal, which reduce the chance of developing new cancers. But frankly, the prognosis is poorer with the gene, though like everyone else I have encountered at Swedish, Resta did not talk about prognosis.

There are also implications for one’s children, who have a 50 percent chance of inheriting the mutation, assuming only one parent has it. While the risk for one’s daughters is obvious, BRCA2 in particular increases the risk of male breast and prostate cancer. Children generally aren’t tested before their mid-20s, and face difficult choices if they have the gene.

Interestingly, Resta said, while most women with the gene opt for double mastectomy, overall survival is the same for those who don’t. But the pathway to survival is different for those who leave the second breast, involving frequent screening and, if and when cancer is detected, aggressive treatment. Most women at high risk of a second breast cancer don’t want to go through it again and have their surgeon cut ‘em both off. I’ve met many without the breast cancer gene who opt for double mastectomy, so traumatized are they by the cancer diagnosis and treatment, and so alienated from their breasts as anything but fear-inducing harbors of potential disease.

Resta told me there were three possible results of genetic testing:

-yes: I have one of the known breast cancer genes;

-no: I don’t have a known breast cancer gene, though it’s always possible I have one that hasn’t been identified; or

-maybe: I have a rare mutation on the BRCA1 or BRCA 2 gene but it’s unknown whether the particular mutation is a “good guy,” a “bad guy” or a benign variant.

I decided to order the Ashkenazi panel, a limited and less costly test of the genes I’m most likely to have. My insurance said it would spring for the $600.

I also learned that I could have my DNA banked for $200. This means my DNA will be stored and can be tested as researchers identify additional genes. According to Mr. Resta, the 2008 federal GINA (which refers to the Genetic Information Nondiscrimination Act, not a female body part) says health insurers can’t use genetic information as a preexisting condition; such protections do not apply to life insurance or disability insurance. Resta suggested that if I bank my DNA, I specify in my will who can and cannot access my genetic information.

I was pretty convinced I didn’t have a breast cancer gene. My family’s longevity is legendary – my dad’s cousin Bob, whose mother lived to 105, used to threaten to take up chain-smoking at 80. (He turned 80 a few years ago and instead of smoking, he runs his hobby farm.) My grandmother and her four sisters, and my mother and her two sisters and their many female cousins and nieces were and are vivacious, long-lived and almost uncannily cancer-free. My dad’s family tree was disrupted when he and his parents fled Austria in 1938, but we’ve stayed in contact with most of the surviving family. There are fewer females in the lineage, but again zero cancer history.

So I was not surprised when the results of the Ashkenazi panel and the general panel I subsequently ordered came back negative. For the sake of my children’s privacy and emotional wellbeing, I would not have written this post or divulged the results otherwise; it’s enough stress to have your mother get cancer without growing up knowing you are at increased risk as well. While my results came as a relief, the process filled me with compassion about the added fears and decisions those with the gene face.  

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[i] It’s produced by Sharsheret, a nonprofit organization. Here’s a link: http://www.sharsheret.org/brochure/488

[ii] No doubt a Jew himself, with the hallmarks of the straight-shooting New York variety, he opened our interview with, “There are Jews in Alaska?” I was momentarily taken aback, having forgotten I’d answered yes to, “Are you of Ashkenazi Jewish descent?” on my intake questionnaire.

[iii] Layla and I both considered changing careers. That is, until we realized the market for genetic counseling in Juneau has to be pretty slim.  

[iv] Jews are generally divided into two ethnic groups: Ashkenazim are descended from Eastern Europe and Russia and comprise 75-85 percent of Jews worldwide. Sephardic Jews are of Arabic and North African descent.  

Alder ran 18 laps in 20 minutes at last week's jogathon PTO fundraiser. He loved it. The girl behind him is skipping.

Alder had a great time with Grandma Mary, especially playing "cardboard city."

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Elias brought his mom, my dear friend Emily, with him. (It rained all weekend--we're in front of an indoor mural.)

My cousin Fran from Las Vegas brought thoughtful gifts and her loving self to the infusion room yesterday.

So shoot me, I posted another food photo: halibut (thank you, Kaelke family), mango-avaocado salad, black beans with butternut squash, brown basmati rice.