The information available on the Breast Cancer Network Australia website is not medical advice and is provided for information purposes only. It should not be viewed as a replacement for a consultation with a qualified medical professional. Our website is designed to offer information and support to the general public. Be aware that we do not provide any medical advice, and for medical advice we recommend you speak to a qualified medical professional or doctor. 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my genetic plot thickens?","id":"message:108851","revisionNum":1,"repliesCount":107,"author":{"__ref":"User:user:20700"},"depth":0,"hasGivenKudo":false,"board":{"__ref":"Forum:board:general-treatment-and-surgery"},"conversation":{"__ref":"Conversation:conversation:108851"},"readOnly":false,"editFrozen":false,"moderationData":{"__ref":"ModerationData:moderation_data:108851"},"body@stripHtml({\"truncateLength\":200})":"Today I went to have genetic testing for the CHEK2 gene mutation. Simply put the CHEK2 gene regulates cell division. If it's mutated the cells go on dividing and, well, cancer. It's also linked to ...","body@stringLength":"3761","rawBody":"Today I went to have genetic testing for the CHEK2 gene mutation.
Simply put the CHEK2 gene regulates cell division. If it's mutated the cells go on dividing and, well, cancer. It's also linked to increased risk of prostate, kidney, colon, thyroid, lung, some brain cancers and osteosarcoma. With breast, it's indicative of an increased risk in the moderate range if no first or second degree relative has it, if both have, as in my case, it's an increase in risk of 44%.
Well aren't I glad I've had a bilateral mastectomy...
And interestingly it has a direct correlation on the effectiveness of some of the breast cancer chemotherapy drugs. If I do have the CHEK2 mutation, I had the right chemo. I checked. Can you imagine how I'd feel if the chemo I'd had was the wrong one?? Holy f**k...
So my remaining sister is trying to decide what to do with her breasts. As the only woman in two generations not to have breast cancer, this is of course a major consideration.
She found her way to a private clinic and had a genomic test and didn't have the CHEK2 mutation. My mother had the same test and did have it. It's quite a rare mutation. My deceased sister didn't do this test, so I'm the last piece in this jigsaw puzzle. If I do have it, my sister is somewhat more in the clear than if I didn't.
The genetic counsellor today said that he'd be very surprised if I didn't have it. He's also fairly convinced that my deceased sister had it based on some previous health issues.
It's a spit test. I had to fill a vial with saliva, and now it will wing its way to San Francisco. Faster and cheaper than doing it at Peter Mac (sad). I'll find out in early November.
The geneticist said that it would have combined with other unknown genetic factors to cause my BC, something that accords with Peter Mac's assessment of a polygenic cause earlier this year.
If I do have it I'm uninsurable (for life insurance), but that ship has sailed anyway. As my kids reach adulthood they'll have to think very carefully about how to proceed.
Along with the CHEK2 test, he's testing a large number of other genes (61 in total). I thought about it when he asked me if I wanted to do the full panel. In the end I decided that if I'm in for a penny I may as well be in for the pound. If I can catch some other health drama early and/or head it off at the pass, I'd like to. Knowledge is power etc.
If I do have it, well I suppose I'll have to have a good chat with my oncologist about how to screen, or not, what precautions I have to take etc. I don't suppose it'd qualify me for a subsidised MRI. That'd be too much to hope for...
This (of course...) has been very stressful. It's probably contributed to my high anxiety week. As I was finishing the ExMed workout today my sister rang to change a complicated arrangement, it got mildly contentious and she hung up on me. Which I hate and, of course, burst into tears. FFS I'm a 52yo woman! Not some angst ridden teenager with pmt! I just can't cope with the slightest derailment at the moment. I simply don't recognise myself. I'm embarrassed writing it here yet again. I won't anymore. Just presume I'm weeping on a regular basis...
","kudosSumWeight":0,"postTime":"2018-09-20T21:20:18.000-07:00","images":{"__typename":"AssociatedImageConnection","edges":[],"totalCount":0,"pageInfo":{"__typename":"PageInfo","hasNextPage":false,"endCursor":null,"hasPreviousPage":false,"startCursor":null}},"attachments":{"__typename":"AttachmentConnection","pageInfo":{"__typename":"PageInfo","hasNextPage":false,"endCursor":null,"hasPreviousPage":false,"startCursor":null},"edges":[]},"tags":{"__typename":"TagConnection","pageInfo":{"__typename":"PageInfo","hasNextPage":false,"endCursor":null,"hasPreviousPage":false,"startCursor":null},"edges":[{"__typename":"TagEdge","cursor":"MjUuMnwyLjF8b3wxMHxfTlZffDE","node":{"__typename":"Tag","id":"tag:anxiety","text":"anxiety","time":"2025-03-25T05:01:46.886-07:00","lastActivityTime":null,"messagesCount":null,"followersCount":null}},{"__typename":"TagEdge","cursor":"MjUuMnwyLjF8b3wxMHxfTlZffDI","node":{"__typename":"Tag","id":"tag:emotions","text":"emotions","time":"2025-03-25T05:01:41.462-07:00","lastActivityTime":null,"messagesCount":null,"followersCount":null}},{"__typename":"TagEdge","cursor":"MjUuMnwyLjF8b3wxMHxfTlZffDM","node":{"__typename":"Tag","id":"tag:genetic-testing","text":"genetic-testing","time":"2025-03-25T05:01:42.514-07:00","lastActivityTime":null,"messagesCount":null,"followersCount":null}}]},"timeToRead":3,"currentRevision":{"__ref":"Revision:revision:108851_1"},"latestVersion":null,"metrics":{"__typename":"MessageMetrics","views":1514},"visibilityScope":"PUBLIC","canonicalUrl":null,"seoTitle":null,"seoDescription":null,"isEscalated":null,"placeholder":false,"originalMessageForPlaceholder":null,"messagePolicies":{"__typename":"MessagePolicies","canModerateSpamMessage":{"__typename":"PolicyResult","failureReason":{"__typename":"FailureReason","message":"error.lithium.policies.feature.moderation_spam.action.moderate_entity.allowed.accessDenied","key":"error.lithium.policies.feature.moderation_spam.action.moderate_entity.allowed.accessDenied","args":[]}}},"archivalData":null,"customFields":[],"body":"Today I went to have genetic testing for the CHEK2 gene mutation.
Simply put the CHEK2 gene regulates cell division. If it's mutated the cells go on dividing and, well, cancer. It's also linked to increased risk of prostate, kidney, colon, thyroid, lung, some brain cancers and osteosarcoma. With breast, it's indicative of an increased risk in the moderate range if no first or second degree relative has it, if both have, as in my case, it's an increase in risk of 44%.
Well aren't I glad I've had a bilateral mastectomy...
And interestingly it has a direct correlation on the effectiveness of some of the breast cancer chemotherapy drugs. If I do have the CHEK2 mutation, I had the right chemo. I checked. Can you imagine how I'd feel if the chemo I'd had was the wrong one?? Holy f**k...
So my remaining sister is trying to decide what to do with her breasts. As the only woman in two generations not to have breast cancer, this is of course a major consideration.
She found her way to a private clinic and had a genomic test and didn't have the CHEK2 mutation. My mother had the same test and did have it. It's quite a rare mutation. My deceased sister didn't do this test, so I'm the last piece in this jigsaw puzzle. If I do have it, my sister is somewhat more in the clear than if I didn't.
The genetic counsellor today said that he'd be very surprised if I didn't have it. He's also fairly convinced that my deceased sister had it based on some previous health issues.
It's a spit test. I had to fill a vial with saliva, and now it will wing its way to San Francisco. Faster and cheaper than doing it at Peter Mac (sad). I'll find out in early November.
The geneticist said that it would have combined with other unknown genetic factors to cause my BC, something that accords with Peter Mac's assessment of a polygenic cause earlier this year.
If I do have it I'm uninsurable (for life insurance), but that ship has sailed anyway. As my kids reach adulthood they'll have to think very carefully about how to proceed.
Along with the CHEK2 test, he's testing a large number of other genes (61 in total). I thought about it when he asked me if I wanted to do the full panel. In the end I decided that if I'm in for a penny I may as well be in for the pound. If I can catch some other health drama early and/or head it off at the pass, I'd like to. Knowledge is power etc.
If I do have it, well I suppose I'll have to have a good chat with my oncologist about how to screen, or not, what precautions I have to take etc. I don't suppose it'd qualify me for a subsidised MRI. That'd be too much to hope for...
This (of course...) has been very stressful. It's probably contributed to my high anxiety week. As I was finishing the ExMed workout today my sister rang to change a complicated arrangement, it got mildly contentious and she hung up on me. Which I hate and, of course, burst into tears. FFS I'm a 52yo woman! Not some angst ridden teenager with pmt! I just can't cope with the slightest derailment at the moment. I simply don't recognise myself. I'm embarrassed writing it here yet again. I won't anymore. Just presume I'm weeping on a regular basis...
"},"Conversation:conversation:108851":{"__typename":"Conversation","id":"conversation:108851","solved":false,"topic":{"__ref":"ForumTopicMessage:message:108851"},"lastPostingActivityTime":"2019-03-05T12:34:39.000-08:00","lastPostTime":"2019-03-05T12:34:39.000-08:00","unreadReplyCount":107,"isSubscribed":false},"ModerationData:moderation_data:108851":{"__typename":"ModerationData","id":"moderation_data:108851","status":"APPROVED","rejectReason":null,"isReportedAbuse":false,"rejectUser":null,"rejectTime":null,"rejectActorType":null},"Revision:revision:108851_1":{"__typename":"Revision","id":"revision:108851_1","lastEditTime":"2018-09-20T21:20:18.000-07:00"},"ForumReplyMessage:message:108945":{"__typename":"ForumReplyMessage","id":"message:108945","conversation":{"__ref":"Conversation:conversation:108851"},"author":{"__ref":"User:user:20700"},"revisionNum":1,"uid":108945,"depth":1,"hasGivenKudo":false,"subscribed":false,"board":{"__ref":"Forum:board:general-treatment-and-surgery"},"subject":"Re: CHEK2... my genetic plot thickens?","readOnly":false,"editFrozen":false,"moderationData":{"__ref":"ModerationData:moderation_data:108945"},"parent":{"__ref":"ForumTopicMessage:message:108851"},"body":"@Sister Exactly! Perfectly put as usual. A big deal but not the biggest. K xox","body@stringLength":"78","rawBody":"@Sister Exactly! Perfectly put as usual. A big deal but not the biggest. K 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