Ultimately, researchers anticipate that systematic monitoring of patients and family members who have germline mutations
in cancer predisposition genes will allow the detection of cancers at their earliest and most curable stage, thereby improving the outcomes for these children and family members.
BRCA germline mutations
in women with uterine serous carcinoma--still a debate.
6) Nipple-sparing mastectomy is an increasingly used procedure for patients undergoing risk-reduction (prophylactic) mastectomy with cancer in contralateral breast or those with high cancer risk due to some germline mutations
in BRCA1/2 genes.
The presence or absence of TP53 germline mutations
provides more information for the providers but is not the basis for diagnosis.
The familial harms result from the inheritable nature of germline mutations
, mixed in with the fact that there are all these complex family dynamics.
The Task Force report also seeks to exclude "tests for somatic cell mutations, unless such tests are capable of detecting germline mutations
We are 99 percent sure these are real germline mutations
and they have been passed from parent to child," Dubrova says.
While many of these familial clusters may be linked to shared behaviors or environmental exposures among family members, some are associated with germline mutations
in specific genes.
If it appears that the breast and ovarian cancer present in a family is inherited, molecular diagnosis may be used to identify the germline mutation
in both affected and potentially presymptomatic individuals.
Occult carcinoma in prophylactic oophorectomy specimens: prevalence and association with BRCA germline mutation
Although the majority of patients with pheochromocytomas have no family or medical history suggesting an inherited condition, up to one-third of patients have an identifiable germline mutation
in one of these genes, and a pheochromocytoma maybe the first or only manifestation of the condition.
Women who are carriers of a germline mutation
in BRCAl or BRCA2 have the greatest risk of ovarian cancer--an estimated 15%-60% risk over a lifetime.
20) Most families with HNPCC carry the germline mutation
of one of four genes--hMSH2, hMLH1, hPMS1, hPMS2.
At least 20 families with germline mutation
in either KIT or PDGFRA have been described.
Nine of 14 germline mutation
carriers had no first-degree family history of breast or ovarian cancer.