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global study-increased breast cancer young women

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    Posted: Jul 31 2020 at 4:16pm
Some unprofessional thoughts on this study-

First of all The Lancet is one of the world's most respected scientific journals. Much additional research needs to be done but I felt this was an interesting study.

https://www.thelancet.com/action/showFullText?journalCode=langlo&pii=S2214109X2

From what I have been told women, with a family history of breast cancer, should begin surveillance 10 years before the youngest age of anyone in the family who has had breast cancer. I was told this after my daughter was diagnosed with TNBC at age 36. My mom was 41 when she was diagnosed with breast cancer.  To be honest, I am not sure if my daughter had a mammogram at 31 if they would have found it prior to it being a palpable mass. But I certainly think if she had had a follow-up mammogram yearly they would have found it.

The recommendation to start mammograms in this country at age 50 is too late an age, in my opinion. Indeed this study shows that many young women start surveillance earlier.

This is all a complicated landscape with many figures from many countries but as with all studies each of us is an n of 1. I know we have many participants on the forum from different countries and the figures, while interesting, may not be useful when it comes to
your personal surveillance program.

For me, the bottom line, is that for those with TNBC I believe, again unprofessionally, that
if you were diagnosed at age 40, it may make sense e.g. for a kid sister to start her surveillance at age 30. There seems to be a much better change for long term survival if cancer is found at Stage I than at more advanced Stages. And if you were diagnosed at age 35 I think it makes sense for your kid sister to start surveillance at age 25.

If you are a young woman, age 25, with the BRCA mutation or some other deleterious mutation I think it makes sense to start surveillance right away. You may have to go to a high-risk clinic to get the testing done but most Certified Genetic Counselors advise surveillance at age 25 or even earlier.

I think an in-depth consultation with a Certified Genetic Counselor (CGC) is really important if there is breast/ovarian cancer in your family. 

Also, seeing a CGC and giving them a good cancer family tree may pick up other cancers e.g. early onset colorectal cancer (CRC) that may mean deleterious mutation like Lynch Syndrome that may be informative for surveillance, as well, for colorectal/uterine cancer. 
I have a very dear friend who was diagnosed with CRC/Lynch Syndrome at age 41 and his twins now 14 will have to get colonoscopies starting at age 25.

with my love to all here,

Steve



I am a BRCA1+ grandson, son and father of women affected by breast/oc-my daughter inherited mutation from me, and at 36, was dx 2004 TNBC I am a volunteer patient advocate with SAGE Patient Advocates
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Post Options Post Options   Thanks (0) Thanks(0)   Quote 123Donna Quote  Post ReplyReply Direct Link To This Post Posted: Aug 03 2020 at 7:28pm
Steve,

Really good and helpful information.  I've also learned that some mutations, like Lynch Syndrome for colon cancer, are now being identified as high risk for breast and gynecological cancers. 

If someone is diagnosed with breast cancer, they should undergo a full genetic mutation panel, not just BRCA 1 & 2.  They are finding many more genes associated with breast cancer. 

A guide to gene analysis and risk:



The above links do not show the connection to lynch syndrome and breast cancer.  Personally, the charts need to be updated to reflect new research.

Two New Genetic Mutations Linked to Higher Risk of Breast Cancer

Many inherited cases of breast cancer are associated with two genetic mutations: BRCA1 (BReast CAncer gene one) and BRCA2 (BReast CAncer gene two). But changes in other genes also are linked to breast cancer.

A study has found that mutations in the MSH6 and PMS2 genes are linked to higher-than-average breast cancer risk.

The research was published online on Jan. 18, 2018 by the journal Genetics in Medicine. Read MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

The MSH6 gene provides instructions for making a protein that helps repair DNA damage. Other studies have found that mutations in the MSH6 gene are linked to Lynch syndrome and a higher risk of ovarian cancer. Having Lynch syndrome increases the risk of many types of cancer, particularly colorectal, endometrial, ovarian, stomach, small intestine, liver, gallbladder, upper urinary tract, and brain.

The PMS2 gene also provides instructions for making a protein that helps repair DNA damage. Mutations in the PMS2 gene are also linked to Lynch syndrome and ovarian cancer.

Researchers have suspected that the genetic mutations linked to Lynch syndrome also were linked to breast cancer, but previous research results have been mixed.

In this study, the researchers analyzed a database of information from more than 50,000 women who had had multi-gene genetic testing for hereditary cancer between 2013 and 2015. Of these women, 423 had a mutation in one of the four genes linked to Lynch syndrome:

  • 15.4% had a MLH1 mutation
  • 22.2% had an MSH2 mutation
  • 33.1% had an MSH6 mutation
  • 29.3% had a PMS2 mutation
DX IDC TNBC 6/09 age 49, Stage 1,Grade 3, 1.5cm,0/5Nodes,KI-67 48%,BRCA-,6/09bi-mx, recon, T/C X4(9/09)
11/10 Recur IM node, Gem,Carb,Iniparib 12/10,MRI NED 2/11,IMRT Radsx40,CT NED11/13,MRI NED3/15

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