Ovarian cancer: identifying and managing familial and genetic risk—summary of new NICE guidance

This article summarises new guidance by the National Institute for Health and Care Excellence (NICE) on identifying and managing familial and genetic risk of ovarian cancer. It covers select recommendations of relevance to those working in primary care and providers who refer to specialist services. Recommendations from this guideline are for anyone who has an increased probability …

What you need to know

  • Men and people born with male reproductive organs have a genetic risk of carrying a pathogenic variant associated with ovarian cancer and other cancers 
  • If a person had a direct-to-consumer genetic test and is reported to have a pathogenic variant for which NHS testing is offered, liaise with a regional NHS genetics service to discuss whether referral is appropriate
  • Refer for genetic counselling and testing people who have a first or second degree relative diagnosed with ovarian cancer, those from high risk groups, anyone identified through cascade testing, or those diagnosed with ovarian cancer linked to pathogenic variants
  • For women, trans men, and non-binary people born with female reproductive organs who are at increased risk of ovarian cancer, risk reducing surgery that is age appropriate for their pathogenic variant or family history is the most effective way to reduce the risk of ovarian cancer

https://www.bmj.com/content/385/bmj.q807

It was a project undertaken by University of Sheffield student, Yifeng, who conducted interviews with Lynch Syndrome advocacy organisations (Lynch Syndrome UK and Lynch Syndrome Ireland) to explore what (& how) they communicate on digital media.

Based on this, she created an animation to share with the #lynchsyndrome community.

This animation features information on the cancer risk brought by different #lynchsyndrome gene mutations (MLH1, MSH2, MSH6, PMS2, EPCAM).

https://leahhz.github.io/animation0621/?fbclid=IwZXh0bgNhZW0CMTAAAR0vCZGbmcg4G0oi89Jy8q9iZxV81V5WRR8bNl2N650bp_qvOZWJAdzkAx8_aem_ARD43W60vC-jIeCEWHKY9nq6tPgW8TfEQEauwZ3B0ZprkM_bBVNkIx5pUx2KP6qdpTwKHUP4k2Rci8ZPznMgm76g

Lynch syndrome: 10 things to know about this genetic condition

https://www.mdanderson.org/cancerwise/qa-understanding-and-managing-lynch-syndrome.h00-158589789.html

Managing menopause after cancer

Prof Donal Brennan, Professor of Gynaecological Oncology in the UCD School of Medicine, University College Dublin, and colleagues have published a new featured review on menopause treatment for cancer patients.

Review aims to implement a more personalised and multidisciplinary approach in treatment of menopause symptoms after cancer.

(What about after surgical menopause?)

The article provides a comprehensive view of the current hormonal and non-hormonal therapy options studied and suggests a framework for more cost-effective and patient-focused models of care to meet the needs of a growing population of cancer survivors.

“Patients have repeatedly highlighted the burden of menopause symptoms after cancer treatment. They feel that these are often minimised or in some cases ignored,” said Prof Brennan. “

Key treatment advice points include:

  • MHT is an effective treatment for vasomotor symptoms and seems to be safe for many patients with cancer, the paper states.
  • Women younger than 45 years without contraindications should be offered an individualised treatment plan including MHT after cancer treatment.
  • If MHT is contraindicated, non-pharmacological and non-hormonal treatments are available for vasomotor symptoms; vaginal oestrogen seems to be safe for most patients with cancer and growing evidence supports safety after breast cancer.
  • Multidisciplinary management of menopause after cancer is essential and should include primary care and, if appropriate, allied health practitioners.

#NoRegrets24

What I Do When My Doctors Don’t Listen

As much as I want to believe my doctors are beyond brilliant and can do anything, they are people too. Much like me, they have good days and not-so-great ones.

What are the signs your doctor isn’t listening?

  1. Constant interruptions.
  2. Fidgeting.
  3. There but not there.
  4. Aggressive body language.

I make sure my doctor is listening by:

  1. Being prepared.
  2. Being courteous.
  3. Rewinding the conversation.
  4. As a last step, change doctors.

Rather than shrink back from having a “tough” conversation with a doctor, it is critical to do just that. Often these types of conversations, rather than ending a relationship with a doctor, strengthen it.

Lynch Syndrome and the Challenge of Getting a Diagnosis

Lynch Syndrome often goes unnoticed in the general population. This is because many individuals affected may not have a family history of cancer or may show unusual symptoms, making it hard to spot without genetic testing.

We need doctors and healthcare teams to know more about Lynch Syndrome, provide more accessible ways for people to get genetic testing, and offer simpler ways to find out if someone might have Lynch Syndrome and if they’re at risk.

Genomic Landscape of Lynch Syndrome Colorectal Neoplasia Identifies Shared Mutated Neoantigens for Immunoprevention

Report a focused somatic mutation and frameshift-neoAg landscape of microsatellite loci from colorectal polyps without malignant potential (PWOMPs), precancers, and early-stage cancers in LS carriers.

Conclusions

Shared frameshift-neoAgs are generated within unstable microsatellite loci at initial stages of LS carcinogenesis and can induce T-cell responses, generating opportunities for vaccine development, targeting LS precancers and early-stage cancers.

https://www.sciencedirect.com/science/article/pii/S0016508524000520

Hereditary Cancer, red flags, and how it impacts screening!

Most cancer is not inherited in families and occurs sporadically, as a result of random changes in our cells over time.  However, approximately 10% of cancer is hereditary and is due to a genetic mutation that has been passed down in the family, increasing the risk for certain cancers to develop. 
https://www.cgaigc.com/post/hereditary-cancer-red-flags-and-how-it-impacts-screening