Research and Reports on Genetics

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Short Communication - Research and Reports on Genetics (2022) Volume 4, Issue 1

Diagnostic and therapeutic implications of genetics in gynecology.

Siyuan Ding*

Department of Molecular Microbiology, Washington University School of Medicine, Missouri, USA

*Corresponding Author:
Siyuan Ding
Department of Molecular Microbiology
Washington University School of Medicine
E-mail: [email protected]

Received: 16-Dec-2021, Manuscript No. AARRGS-22- 53385; Editor assigned: 20-Dec-2021, PreQC No. AARRGS-22- 53385 (PQ); Reviewed: 03- Jan-2022, QC No. AARRGS-22- 53385; Revised: 06-Jan-2022, Manuscript No. AARRGS-22- 53385 (R); Published: 13- Jan-2022, DOI:10.35841/2591-7986-4.1.102

Citation: Ding S. Diagnostic and therapeutic implications of genetics in gynaecology. J Res Rep Genet. 2022; 4(1):102

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Cancer genetics is quickly advancing, allowing us to gain a better understanding of disease processes. This enables us to adapt cancer treatment and care for women, as well as to assist women who are predisposed to gynaecological cancers. While the majority of gynaecological malignancies are sporadic, in more than 10% of cases, a predisposition to acquire cancer more frequently and sooner can be identified. Genetic breast and/or ovarian cancer, as well as Lynch syndrome, are the most prevalent hereditary syndromes we treat (LS).


Gynecological malignancies, Germline, Somatic, Hereditary predisposition.


Gynecological malignancies are caused by genetic alterations that can develop sporadically, be induced by an infectious agent (the human papillomavirus (HPV) is the causal agent for cervical cancer), or be inherited. It is estimated that up to 5% of endometrial malignancies and 10% of ovarian cancers are linked to a specific hereditary propensity. When compared to women without a family history of ovarian cancer, the risk of the disease is up to four times higher in women with a first-degree relative who has had the disease [1]. The discovery of genes that predispose women to gynaecological cancers has revolutionised how we treat those who are at higher risk. The key result is that those in the high-risk group can benefit from education, increased surveillance, and risk-reduction efforts. These advancements have also aided the development of innovative medicines for treating women with the condition in recent years. We used to identify high-risk families by taking a full family history and then giving genetic testing to cancer patients with a significant family history of related cancers. Archival tissue from canceraffected relatives was occasionally analysed for mutations. The data was usually collected in multidisciplinary specialist clinics so that women might be counselled before being tested [2].

With the introduction of reflex testing, the technique has evolved. When a woman is diagnosed with cancer for the first time, she is offered this test, which includes testing for both germline and tumour (somatic) genetic abnormalities. This usually happens within the first three to six months after a diagnosis. This technique is influenced in part by the availability of newer medications that provide significant benefits to women with mutations (germline and somatic) [3]. Furthermore, as compared to a family history method alone, reflex testing greatly increases the identification of individuals with inherited genetic abnormalities. After proper counselling, if a hereditary predisposition in the woman with cancer is discovered, predictive genetic testing is offered to the unaffected members of her family. Only about a third of cancers are caused by genetic predispositions, thus measures to improve early detection and treatment of cancers that occur seldom are still needed. While we continue to make progress in the field of diagnosis and management, we must keep in mind the important and long-term consequences of preventative riskreducing surgery on each individual woman, including regret and the possible influence on long-term wellbeing. Loss of fertility, early menopause, and a self-perceived loss of feminine identity can all affect women. Furthermore, the perception that risk reduction surgery entirely eliminates the risk of cancer drives the acceptance of risk reduction surgery. However, there is still a modest but noticeable risk of peritoneal cancer later in life, which is similar to or lower than the population risk.

In the clinic, we see two groups of women who want assistance in obtaining additional care. The first category consists of women who have been diagnosed with a cancer such as breast, ovarian, or endometrial cancer and are seeking guidance and assistance about genetic testing and its implications for therapy, ongoing management, and prospective family implications.

The second group of women includes individuals who are cancer-free but have been recognised as carriers due to a close family who has been affected. It's critical to be mindful of the psychological impact of the existential danger of cancer, and the consultation should be handled sympathetically with plenty of time for discussion and decision-making. This second group represents a distinct form of clinical interaction than traditional doctor-patient interactions [4].

The goal of this article is to discuss recent breakthroughs in the field of inherited genetics of gynaecological cancers, as well as possible risk reduction medicines and the current diagnostic and management routes.


  1. Crosbie EJ, Ryan NAJ, Arends MJ, et al. The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome. Genet Med. 2019; 21(2):2390-2400.
  2. Indexed at, GoogleScholar, Cross Ref

  3. Gayther SA, Pharoah PDP. The inherited genetics of ovarian and endometrial cancer. Curr Opin Genet Dev. 2010; 20(2): 231-238.
  4. Indexed at, GoogleScholar

  5. Sundar S, Manchanda R, Gourley C. et al. British Gynaecological Cancer Society/British Association of Gynaecological Pathology consensus for germline and tumor testing for BRCA1/2 variants in ovarian cancer in the United Kingdom. Int J Gynecol Cancer. 2021(2); 31: 272.
  6. Indexed at, GoogleScholar, Cross Ref

  7. Jarboe EA, Folkins AK, Crum CP, et al. Pathology of BRCA-associated ovarian cancers, including occult cancers. In: Lu KH, editor. Hereditary gynecologic cancer: risk, prevention, and management. Informa Healthcare; New York. 2008; 29–43.
  8. GoogleScholar, Cross Ref

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